Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Kant, Sarina G"'
Autor:
Levitin MO; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Evox Therapeutics Limited, Oxford OX4 4HG, UK., Rawlins LE; RILD Wellcome Wolfson Medical Research Centre, University of Exeter, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX1 2ED, UK., Sanchez-Andrade G; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Arshad OA; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Collins SC; INSERM Unit 1231, Université de Bourgogne Franche-Comté, Dijon 21078, France., Sawiak SJ; Behavioural and Clinical Neuroscience Institute, University of Cambridge, Cambridge CB2 3EB, UK.; Wolfson Brain Imaging Centre, Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK., Iffland PH 2nd; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD 21201, USA., Andersson MHL; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Bupp C; Spectrum Health, Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA., Cambridge EL; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Coomber EL; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Ellis I; Department of Clinical Genetics, Alder Hey Children's Hospital, Liverpool L14 5AB, UK., Herkert JC; Department of Genetics, University Medical Centre, University of Groningen, Groningen 9713 GZ, The Netherlands., Ironfield H; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Jory L; Haven Clinical Psychology Practice Ltd, Bude, Cornwall EX23 9HP, UK., Kretz PF; IGBMC, UMR7104, INSERM, Illkirch 67404, France., Kant SG; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam 3015 GD, The Netherlands.; Department of Clinical Genetics, Leiden University Medical Center, Leiden 2300 RC, The Netherlands., Neaverson A; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Open Targets, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Department of Genetics, University of Cambridge, Cambridge CB2 3EH, UK., Nibbeling E; Laboratory for Diagnostic Genome Analysis, Department of Clinical Genetics, Leiden University Medical Center, Leiden 3015 GD, The Netherlands., Rowley C; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Institute of Metabolic Science, Cambridge University, Cambridge CB2 0QQ, UK., Relton E; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Faculty of Health and Medical Science, University of Surrey, Guildford GU2 7YH, UK., Sanderson M; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Scott EM; New Leaf Center, Clinic for Special Children, Mount Eaton, OH 44659, USA., Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford OX3 7HE, UK., Shuen AY; London Health Sciences Centre, London, ON N6A 5W9, Canada.; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5W9, Canada., Schreiber J; Department of Neurology, Children's National Medical Center, Washington DC 20007, USA., Tuck L; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Tonks J; Haven Clinical Psychology Practice Ltd, Bude, Cornwall EX23 9HP, UK., Terkelsen T; Department of Clinical Genetics, Aarhus University Hospital, Aarhus DK-8200, Denmark., van Ravenswaaij-Arts C; Department of Genetics, University Medical Centre, University of Groningen, Groningen 9713 GZ, The Netherlands., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester LE1 7RH, UK., Wenger O; New Leaf Center, Clinic for Special Children, Mount Eaton, OH 44659, USA., Wright M; Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne NE1 7RU, UK., Day A; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Qkine Ltd., Cambridge CB5 8HW, UK., Hunter A; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Patel M; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Lelliott CJ; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Institute of Metabolic Science, Cambridge University, Cambridge CB2 0QQ, UK., Crino PB; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD 21201, USA., Yalcin B; INSERM Unit 1231, Université de Bourgogne Franche-Comté, Dijon 21078, France., Crosby AH; RILD Wellcome Wolfson Medical Research Centre, University of Exeter, Exeter EX2 5DW, UK., Baple EL; RILD Wellcome Wolfson Medical Research Centre, University of Exeter, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX1 2ED, UK., Logan DW; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Waltham Petcare Science Institute, Waltham on the Wolds LE14 4RT, UK., Hurles ME; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Open Targets, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Gerety SS; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Open Targets, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Nov 02; Vol. 146 (11), pp. 4766-4783.
Autor:
Mak CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Doherty D; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Lin AE; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA., Vegas N; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Cho MT; GeneDx, Gaithersburg, MD, USA., Viot G; Gynécologie Obstétrique, Hôpital Cochin, Hôpitaux Universitaires Paris Centre (HUPC), Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France., Dimartino C; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Weisfeld-Adams JD; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Li C; McMaster University Medical Center, Hamilton, Ontario, Canada., Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Horn D; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Troyer C; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA., Kant SG; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands., Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Ishak GE; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Radiology, University of Washington, Seattle, WA, USA., Leung G; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Barone Pritchard A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Yang S; GeneDx, Gaithersburg, MD, USA., Bend EG; Greenwood Genetic Center, Greenwood, SC, USA.; PreventionGenetics, Marshfield, WI, USA., Filippini F; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Roadhouse C; McMaster University Medical Center, Hamilton, Ontario, Canada., Lebrun N; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France., Mehaffey MG; Department of Pediatrics, University of Washington, Seattle, WA, USA., Martin PM; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Apple B; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Puk O; Praxis für Humangenetik Tübingen, Tübingen, Germany., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands., Henderson LB; GeneDx, Gaithersburg, MD, USA., McGowan R; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Wentzensen IM; GeneDx, Gaithersburg, MD, USA., Pei S; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Zahir FR; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Yu M; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Gibson WT; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Seman A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Steeves M; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA., Murrell JR; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Luettgen S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Francisco E; eviCore healthcare, Bluffton, SC, USA., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany., Amlie-Wolf L; Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA., Kaindl AM; Charité - Universitätsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Department of Pediatric Neurology and Center for Chronically Sick Children, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany., Wilson WG; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA., Halbach S; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Felsenstein Medical Research Center, Petach Tikva, Israel., Lev-El N; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Vissers LELM; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, HB Nijmegen, The Netherlands., Radtke K; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA., Chelly J; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964, CNRS UMR7104, Université de Strasbourg, 67404 Illkirch, France., Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; University of Washington Center for Mendelian Genomics, Seattle, WA, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; University of Washington Center for Mendelian Genomics, Seattle, WA, USA., Reid RR; Department of Surgery, Section of Plastic Surgery, University of Chicago, Chicago, IL, USA., Devriendt K; Department of Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA., McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Powis Z; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA., Bienvenu T; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France.; Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, 75014 Paris, France., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, 3052, Australia., Orenstein N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA., Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Waggoner D; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Gripp KW; Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA., Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH, UK., Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Lyonnet S; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Cormier-Daire V; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Institut Imagine, 75015 Paris, France., Viskochil D; Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA., Hoffman TL; Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA., Amiel J; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Gordon CT; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Publikováno v:
Brain : a journal of neurology [Brain] 2020 Jan 01; Vol. 143 (1), pp. 55-68.
Autor:
Walenkamp MJE; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands., Robers JML; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Wit JM; Department of Pediatrics, Leiden University Medical Center, Leiden, Netherlands., Zandwijken GRJ; Dutch Growth Research Foundation, Rotterdam, Netherlands., van Duyvenvoorde HA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Oostdijk W; Department of Pediatrics, Leiden University Medical Center, Leiden, Netherlands., Hokken-Koelega ACS; Dutch Growth Research Foundation, Rotterdam, Netherlands.; Department of Pediatrics, Subdivision of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, Netherlands., Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Losekoot M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2019 Aug 01; Vol. 104 (8), pp. 3157-3171.
Autor:
Lin Y; Department of Oncology-Pathology, Karolinska Institutet, Cancer Center Karolinska (CCK), Karolinska University Hospital, Stockholm, Sweden., van Duyvenvoorde HA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Liu H; Department of Oncology-Pathology, Karolinska Institutet, Cancer Center Karolinska (CCK), Karolinska University Hospital, Stockholm, Sweden.; Laboratory of Aquatic Animal Nutrition and Feed, Fisheries College, Guangdong Ocean University, Zhanjiang, China., Yang C; Department of Oncology-Pathology, Karolinska Institutet, Cancer Center Karolinska (CCK), Karolinska University Hospital, Stockholm, Sweden.; Department of General Surgery, Xiangya Hospital, Central South University, Changsha, China., Warsito D; Department of Oncology-Pathology, Karolinska Institutet, Cancer Center Karolinska (CCK), Karolinska University Hospital, Stockholm, Sweden., Yin C; Department of Oncology-Pathology, Karolinska Institutet, Cancer Center Karolinska (CCK), Karolinska University Hospital, Stockholm, Sweden., Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Haglund F; Department of Oncology-Pathology, Karolinska Institutet, Cancer Center Karolinska (CCK), Karolinska University Hospital, Stockholm, Sweden., Wit JM; Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands., Larsson O; Department of Oncology-Pathology, Karolinska Institutet, Cancer Center Karolinska (CCK), Karolinska University Hospital, Stockholm, Sweden.
Publikováno v:
European journal of endocrinology [Eur J Endocrinol] 2018 Aug; Vol. 179 (2), pp. 85-95. Date of Electronic Publication: 2018 May 22.
Autor:
Wit JM; Departments of PaediatricsClinical GeneticsLeiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands j.m.wit@lumc.nl., Oostdijk W; Departments of PaediatricsClinical GeneticsLeiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands., Losekoot M; Departments of PaediatricsClinical GeneticsLeiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands., van Duyvenvoorde HA; Departments of PaediatricsClinical GeneticsLeiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands., Ruivenkamp CA; Departments of PaediatricsClinical GeneticsLeiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands., Kant SG; Departments of PaediatricsClinical GeneticsLeiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.
Publikováno v:
European journal of endocrinology [Eur J Endocrinol] 2016 Apr; Vol. 174 (4), pp. R145-73. Date of Electronic Publication: 2015 Nov 17.
Autor:
Bakker B; Department of Pediatrics (B.B., L.J.H.S., M.C.W.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands; Department of Clinical Genetics (H.B.), Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands; and Department of Clinical Genetics (S.G.K.), Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Sonneveld LJ; Department of Pediatrics (B.B., L.J.H.S., M.C.W.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands; Department of Clinical Genetics (H.B.), Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands; and Department of Clinical Genetics (S.G.K.), Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Woltering MC; Department of Pediatrics (B.B., L.J.H.S., M.C.W.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands; Department of Clinical Genetics (H.B.), Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands; and Department of Clinical Genetics (S.G.K.), Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Bikker H; Department of Pediatrics (B.B., L.J.H.S., M.C.W.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands; Department of Clinical Genetics (H.B.), Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands; and Department of Clinical Genetics (S.G.K.), Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Kant SG; Department of Pediatrics (B.B., L.J.H.S., M.C.W.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands; Department of Clinical Genetics (H.B.), Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands; and Department of Clinical Genetics (S.G.K.), Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2015 Nov; Vol. 100 (11), pp. 3963-6. Date of Electronic Publication: 2015 Sep 14.
Autor:
Kant SG; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA s.g.kant@lumc.nl., Cervenkova I; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA., Balek L; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA., Trantirek L; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA., Santen GW; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA., de Vries MC; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA., van Duyvenvoorde HA; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA., van der Wielen MJ; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA., Verkerk AJ; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA., Uitterlinden AG; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA., Hannema SE; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA., Wit JM; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA., Oostdijk W; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA., Krejci P; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA., Losekoot M; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Publikováno v:
European journal of endocrinology [Eur J Endocrinol] 2015 Jun; Vol. 172 (6), pp. 763-70. Date of Electronic Publication: 2015 Mar 16.
Autor:
Oostdijk W; Department of Pediatrics (W.O., M.C.d.V., J.M.W.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands; Centre for Endocrinology, Diabetes, and Metabolism (J.I., J.W.M., P.J.H., A.E.T., M.W.O., B.A.H., W.A.), School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom; Department of Clinical Genetics (S.G.K., G.W.E.S., M.L.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands; and Department of Internal Medicine (A.J.M.H.V., A.G.U.), Erasmus Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., Idkowiak J, Mueller JW, House PJ, Taylor AE, O'Reilly MW, Hughes BA, de Vries MC, Kant SG, Santen GW, Verkerk AJ, Uitterlinden AG, Wit JM, Losekoot M, Arlt W
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2015 Apr; Vol. 100 (4), pp. E672-80. Date of Electronic Publication: 2015 Jan 16.
Autor:
Hannema SE; MD, PhD, Department of Paediatrics, Leiden University Medical Centre, Postbus 9600, 2300 RC Leiden, The Netherlands. s.e.hannema@lumc.nl., van Duyvenvoorde HA, Premsler T, Yang RB, Mueller TD, Gassner B, Oberwinkler H, Roelfsema F, Santen GW, Prickett T, Kant SG, Verkerk AJ, Uitterlinden AG, Espiner E, Ruivenkamp CA, Oostdijk W, Pereira AM, Losekoot M, Kuhn M, Wit JM
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2013 Dec; Vol. 98 (12), pp. E1988-98. Date of Electronic Publication: 2013 Sep 20.
Autor:
Kant SG; Center for Human and Clinical Genetics-Department of Clinical Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands. s.g.kant@lumc.nl, van der Kamp HJ, Kriek M, Bakker E, Bakker B, Hoffer MJ, van Bunderen P, Losekoot M, Maas SM, Wit JM, Rappold G, Breuning MH
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2011 Feb; Vol. 96 (2), pp. E356-9. Date of Electronic Publication: 2010 Nov 10.