Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Gazdagh, G."'
Autor:
Watts LM; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Bunyan DJ; Wessex Genomics Laboratory Service, Salisbury District Hospital, Salisbury SP2 8BJ, UK., Giacopuzzi E; Human Technopole, Milan 20157, Italy., Walker S; Genomics England, London E14 5AB, UK., Gazdagh G; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK., Thomas NS; Wessex Genomics Laboratory Service, Salisbury District Hospital, Salisbury SP2 8BJ, UK., Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK., Childs AM; Paediatric Neuromuscular Disease Unit, Leeds Teaching Hospitals Trust, Leeds LS1 3EX, UK., Forsyth J; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham B15 2TG, UK., Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK., Khan S; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK., Willis TA; Muscle Team, Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust, Oswestry, Shropshire SY10 7AG, UK., Taylor JC; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Pagnamenta AT; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter EX2 5DW, UK.
Publikováno v:
Brain communications [Brain Commun] 2024 Sep 25; Vol. 6 (5), pp. fcae330. Date of Electronic Publication: 2024 Sep 25 (Print Publication: 2024).
Autor:
Mackay DJG; Faculty of Medicine, University of Southampton, Southampton, UK. djgm@soton.ac.uk., Gazdagh G; Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK., Monk D; Biomedical Research Centre, School of Biological Sciences, University of East Anglia, Norwich Research Park, Norwich, UK., Brioude F; Centre de Recherche Saint Antoine, Endocrinologie Moléculaire et Pathologies d'empreinte, INSERMSorbonne Université, Hôpital Armand TrousseauAPHP, 75012, Paris, France., Giabicani E; Centre de Recherche Saint Antoine, Endocrinologie Moléculaire et Pathologies d'empreinte, INSERMSorbonne Université, Hôpital Armand TrousseauAPHP, 75012, Paris, France., Krzyzewska IM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Kalish JM; Division of Human Genetics and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Departments of Pediatrics and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA., Maas SM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Beygo J; Institut Für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Kahre T; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Tenorio-Castano J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Institute of Medical and Molecular Genetics, INGEMM-Idipaz, Madrid, Spain., Ambrozaitytė L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Burnytė B; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Cerrato F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy., Davies JH; Faculty of Medicine, University of Southampton, Southampton, UK.; Regional Centre for Paediatric Endocrinology, Faculty of Medicine, Southampton Children's Hospital, University of Southampton, Southampton, UK., Ferrero GB; Department of Clinical and Biological Science, School of Medicine, Centre for Hemoglobinopathies, AOU San Luigi Gonzaga, University of Turin, Turin, Italy., Fjodorova O; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Manero-Azua A; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain., Pereda A; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain., Russo S; IRCCS Research Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy., Tannorella P; IRCCS Research Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy., Temple KI; Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK., Õunap K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Riccio A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics (IGB),'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy., de Nanclares GP; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain., Maher ER; Aston Medical School, Aston University, Birmingham, UK.; Department of Medical Genetics, University of Cambridge, Cambridge, UK., Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Institute of Medical and Molecular Genetics, INGEMM-Idipaz, Madrid, Spain., Netchine I; Centre de Recherche Saint Antoine, Endocrinologie Moléculaire et Pathologies d'empreinte, INSERMSorbonne Université, Hôpital Armand TrousseauAPHP, 75012, Paris, France., Eggermann T; Institute for Human Genetics and Genome Medicine. Faculty of Medicine, RWTH University Aachen, Aachen, Germany., Bliek J; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Clinical epigenetics [Clin Epigenetics] 2024 Aug 01; Vol. 16 (1), pp. 99. Date of Electronic Publication: 2024 Aug 01.
Autor:
Tobias ES; West of Scotland Centre for Genomic Medicine, Laboratory Medicine Building, Queen Elizabeth University Hospital, Govan Road, Glasgow, G51 4TF, UK. edward.tobias@glasgow.ac.uk.; Academic Unit of Medical Genetics and Clinical Pathology, University of Glasgow, Queen Elizabeth University Hospital, Glasgow, G51 4TF, UK. edward.tobias@glasgow.ac.uk., Lucas-Herald AK; Developmental Endocrinology Research Group, School of Medicine, Dentistry and Nursing, University of Glasgow, Royal Hospital for Children, 1345 Govan Road, Glasgow, G51 4TF, UK., Sagar D; MRC Mammalian Genetics Unit, Harwell Institute, Harwell Campus, Oxfordshire, OX11 0RD, UK., Montezano AC; Institute of Cardiovascular and Medical Sciences, British Heart Foundation Centre for Research Excellence, University of Glasgow, 126 University Avenue, Glasgow, G12 8TA, UK.; Research Institute of McGill University Health Centre, McGill University, Montreal, QC, Canada., Rios FJ; Institute of Cardiovascular and Medical Sciences, British Heart Foundation Centre for Research Excellence, University of Glasgow, 126 University Avenue, Glasgow, G12 8TA, UK., De Lucca Camargo L; Institute of Cardiovascular and Medical Sciences, British Heart Foundation Centre for Research Excellence, University of Glasgow, 126 University Avenue, Glasgow, G12 8TA, UK.; Research Institute of McGill University Health Centre, McGill University, Montreal, QC, Canada., Hamilton G; Glasgow Polyomics, College of Medical Veterinary and Life Sciences, Garscube Estate, Switchback Rd, Glasgow, G61 1BD, UK., Gazdagh G; West of Scotland Centre for Genomic Medicine, Laboratory Medicine Building, Queen Elizabeth University Hospital, Govan Road, Glasgow, G51 4TF, UK.; Academic Unit of Medical Genetics and Clinical Pathology, University of Glasgow, Queen Elizabeth University Hospital, Glasgow, G51 4TF, UK., Diver LA; West of Scotland Centre for Genomic Medicine, Laboratory Medicine Building, Queen Elizabeth University Hospital, Govan Road, Glasgow, G51 4TF, UK., Williams N; West of Scotland Centre for Genomic Medicine, Laboratory Medicine Building, Queen Elizabeth University Hospital, Govan Road, Glasgow, G51 4TF, UK., Herzyk P; Glasgow Polyomics, College of Medical Veterinary and Life Sciences, Garscube Estate, Switchback Rd, Glasgow, G61 1BD, UK.; Institute of Molecular Cell and Systems Biology, College of Medical Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8QQ, UK., Touyz RM; Institute of Cardiovascular and Medical Sciences, British Heart Foundation Centre for Research Excellence, University of Glasgow, 126 University Avenue, Glasgow, G12 8TA, UK.; Research Institute of McGill University Health Centre, McGill University, Montreal, QC, Canada., Greenfield A; MRC Mammalian Genetics Unit, Harwell Institute, Harwell Campus, Oxfordshire, OX11 0RD, UK.; Nuffield Department of Women's & Reproductive Health, Institute of Reproductive Sciences, University of Oxford, Oxford, UK., McGowan R; West of Scotland Centre for Genomic Medicine, Laboratory Medicine Building, Queen Elizabeth University Hospital, Govan Road, Glasgow, G51 4TF, UK.; Developmental Endocrinology Research Group, School of Medicine, Dentistry and Nursing, University of Glasgow, Royal Hospital for Children, 1345 Govan Road, Glasgow, G51 4TF, UK., Ahmed SF; Developmental Endocrinology Research Group, School of Medicine, Dentistry and Nursing, University of Glasgow, Royal Hospital for Children, 1345 Govan Road, Glasgow, G51 4TF, UK.
Publikováno v:
Endocrine [Endocrine] 2024 May; Vol. 84 (2), pp. 345-349. Date of Electronic Publication: 2024 Feb 24.
Autor:
Alhendi ASN; Faculty of Medicine, University of Southampton, UK., Gazdagh G; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK., Lim D; Birmingham Women's and Children's Foundation Trust, UK., McMullan D; Birmingham Women's and Children's Foundation Trust, UK., Wright M; Newcastle Hospitals NHS Foundation Trust, UK., Temple IK; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK., Davies JH; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK., Mackay DJG; Faculty of Medicine, University of Southampton, UK.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 383-388. Date of Electronic Publication: 2023 Oct 18.
Autor:
Kushary, S.T., Revah-Politi, A., Barua, S., Ganapathi, M., Accogli, A., Aggarwal, V., Brunetti-Pierri, N., Cappuccio, G., Capra, V., Fagerberg, C.R., Gazdagh, G., Guzman, E., Hadonou, M., Harrison, V., Havelund, K., Iancu, D., Kraus, A., Lippa, N.C., Mansukhani, M., McBrian, D., McEntagart, M., Pacio-Miguez, M., Palomares-Bralo, M., Pottinger, C., Ruivenkamp, C.A.L., Sacco, O., Santen, G.W.E., Santos-Simarro, F., Scala, M., Short, J., Sorensen, K.P., Woods, C.G., Yeboa, K.A., DDD Study, TUDP Consortium
Publikováno v:
Am J Med Genet A
American Journal of Medical Genetics Part A. WILEY
American Journal of Medical Genetics Part A
Kushary, S T, Revah-Politi, A, Barua, S, Ganapathi, M, Accogli, A, Aggarwal, V, Brunetti-Pierri, N, Cappuccio, G, Capra, V, Fagerberg, C R, Gazdagh, G, Guzman, E, Hadonou, M, Harrison, V, Havelund, K, Iancu, D, Kraus, A, Lippa, N C, Mansukhani, M, McBrian, D, McEntagart, M, Pacio-Míguez, M, Palomares-Bralo, M, Pottinger, C, Ruivenkamp, C A L, Sacco, O, Santen, G W E, Santos-Simarro, F, Scala, M, Short, J, Sørensen, K P, Woods, C G, Anyane Yeboa, K, DDD Study & TUDP Consortium 2021, ' ZTTK syndrome : Clinical and molecular findings of 15 cases and a review of the literature ', American Journal of Medical Genetics, Part A, vol. 185, no. 12, pp. 3740-3753 . https://doi.org/10.1002/ajmg.a.62445
American Journal of Medical Genetics Part A. WILEY
American Journal of Medical Genetics Part A
Kushary, S T, Revah-Politi, A, Barua, S, Ganapathi, M, Accogli, A, Aggarwal, V, Brunetti-Pierri, N, Cappuccio, G, Capra, V, Fagerberg, C R, Gazdagh, G, Guzman, E, Hadonou, M, Harrison, V, Havelund, K, Iancu, D, Kraus, A, Lippa, N C, Mansukhani, M, McBrian, D, McEntagart, M, Pacio-Míguez, M, Palomares-Bralo, M, Pottinger, C, Ruivenkamp, C A L, Sacco, O, Santen, G W E, Santos-Simarro, F, Scala, M, Short, J, Sørensen, K P, Woods, C G, Anyane Yeboa, K, DDD Study & TUDP Consortium 2021, ' ZTTK syndrome : Clinical and molecular findings of 15 cases and a review of the literature ', American Journal of Medical Genetics, Part A, vol. 185, no. 12, pp. 3740-3753 . https://doi.org/10.1002/ajmg.a.62445
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is caused by de novo loss-of-function variants in the SON gene (MIM #617140). This multisystemic disorder is characterized by intellectual disability, seizures, abnormal brain imaging, variable dysmorphic fea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4593b25670ca216555ca32b4c3200bd
https://hdl.handle.net/1887/3213898
https://hdl.handle.net/1887/3213898
Autor:
Scougall K; University of Glasgow, Glasgow, UK., Bryce J; University of Glasgow, Glasgow, UK., Baronio F; IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico S Orsola, Bologna, Italy., Boal RL; Great North Children's Hospital, Newcastle Upon Tyne, UK., Castera JR; Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina., Castro S; Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina., Cheetham T; Great North Children's Hospital, Newcastle Upon Tyne, UK., Costa EC; Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil., Darendeliler F; Istanbul University, Istanbul, Turkey., Davies JH; Southampton Children's Hospital, Southampton, UK., Dirlewanger M; University Hospital of Geneva, Geneva, Switzerland., Gazdagh G; Southampton Children's Hospital, Southampton, UK., Globa E; Ukrainian Research Center of Endocrine Surgery Endocrine Organs and Tissue Transplantation, Kyiv, Ukraine., Guerra-Junior G; State University of Campinas, Campinas, Brazil., Guran T; Marmara University, Istanbul, Turkey., Herrmann G; University Medical Centre, Ulm, Germany., Holterhus PM; University Hospital of Schleswig-Holstein Campus Kiel/Christian-Albrechts-University of Kiel, Kiel, Germany., Akgül AK; Marmara University Faculty of Medicine, Istanbul, Turkey., Markosyan R; Yerevan State Medical University Endocrinology Clinic, Yerevan, Armenia., McElreavey K; Institut Pasteur, Paris, France., Miranda ML; State University of Campinas, Campinas, Brazil., Nordenstrom A; Karolinska University Hospital, Stockholm, Sweden., O'Toole S; Royal Hospital for Children, Glasgow, UK., Poyrazoglu S; Istanbul University, Istanbul, Turkey., Russo G; IRCCS Ospedale San Raffaele, Milano, Italy., Schwitzgebel V; University Hospital of Geneva, Geneva, Switzerland., Stancampiano M; IRCCS Ospedale San Raffaele, Milano, Italy., Steigert M; Graubunden Cantonal Hospital, Chur, Switzerland., Ahmed SF; University of Glasgow, Glasgow, UK., Lucas-Herald AK; University of Glasgow, Glasgow, UK.
Publikováno v:
World journal of pediatric surgery [World J Pediatr Surg] 2023 Oct 11; Vol. 6 (4), pp. e000599. Date of Electronic Publication: 2023 Oct 11 (Print Publication: 2023).
Autor:
Gazdagh G; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK., Gonzalez AMC; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Rodriguez MP; Hospital Universitari Son Espases, 07120, Palma, Illes Balears, Spain., Chaudhry A; Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada., Madruga M; Hospital Viamed Santa Ángela De la Cruz, Sevilla, 41014, Spain., Vansenne F; Department of Clinical Genetics, University Medical Center Groningen, 9713 GZ, Groningen, The Netherlands., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Curie A; Reference Center for Intellectual Disability From Rrare Causes, Department of Child Neurology, Woman Mother and Child Hospital, Hospices Civils de Lyon, Lyon Neuroscience Research Centre, CNRS UMR5292, INSERM U1028, Université de Lyon, Bron, France., Stattin EL; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institute and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Trajkova S; Department of Medical Sciences, Medical Genetics and Rare diseases, University of Turin, Turin, Italy., Angelovska ES; Department of Endocronology and Genetics, University Clinic for Children's Diseases, Medical Faculty, University Sv. Kiril i Metodij, Skopje, Republic of Macedonia., McWilliam C; NHS Tayside, Ninewells Hospital, Dundee, UK., Wyatt PR; Department of Obstetrics and Gynecology, York Central Hospital, Toronto, Canada., O'Driscoll M; West Midlands Regional Genetics Service, Birmingham, UK., Atton G; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK., Bergman AK; Hannover Medical School, Institute of Human Genetics, Hannover, Germany., Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany.; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Mewasingh LD; Department of Paediatric Neurology, Imperial College Healthcare NHS Trust, London, UK., López AG; Unidad de Dismorfologia, Unidad de Gestión Clínica de Pediatría, Hospital Universitario Virgen del Rocio, Sevilla, Pediatric department, University of Seville, Spain., Alonso-Luengo O; Sección de Neurología Pediátrica, Unidad de Gestión Clínica de Pediatría. Hospital Universitario Virgen del Rocio, Sevilla, Pediatric department, University of Seville, Spain., Wai HA; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Rohde O; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Boiroux P; Centre de Recherche en Biologie Cellulaire de Montpellier (CRBM), University of Montpellier CNRS, Montpellier, France., Debant A; Centre de Recherche en Biologie Cellulaire de Montpellier (CRBM), University of Montpellier CNRS, Montpellier, France., Schmidt S; Centre de Recherche en Biologie Cellulaire de Montpellier (CRBM), University of Montpellier CNRS, Montpellier, France., Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jul; Vol. 191 (7), pp. 1722-1740. Date of Electronic Publication: 2023 Mar 29.
Autor:
Bonnet M; Centre de Recherche en Biologie Cellulaire de Montpellier (CRBM), University of Montpellier, CNRS, Montpellier, France., Roche F; Institut de la Vision, Sorbonne University, CNRS, INSERM, Paris, France., Fagotto-Kaufmann C; Centre de Recherche en Biologie Cellulaire de Montpellier (CRBM), University of Montpellier, CNRS, Montpellier, France., Gazdagh G; Faculty of Medicine, University of Southampton, Southampton, SO16 5YA, UK.; Wessex Clinical Genetics Service, University Hospital Southampton National Health Service Foundation Trust, Southampton, SO16 5YA, UK., Truong I; Centre de Recherche en Biologie Cellulaire de Montpellier (CRBM), University of Montpellier, CNRS, Montpellier, France.; Institut de Génomique Fonctionnelle (IGF), Université de Montpellier, CNRS, INSERM, Montpellier, France., Comunale F; Centre de Recherche en Biologie Cellulaire de Montpellier (CRBM), University of Montpellier, CNRS, Montpellier, France., Barbosa S; Centre de Recherche en Biologie Cellulaire de Montpellier (CRBM), University of Montpellier, CNRS, Montpellier, France., Bonhomme M; Centre de Recherche en Biologie Cellulaire de Montpellier (CRBM), University of Montpellier, CNRS, Montpellier, France., Nafati N; Montpellier Ressources Imagerie, BioCampus, University of Montpellier, CNRS, INSERM, 34293, Montpellier, France., Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, SO16 5YA, UK., Rodriguez MP; Hospital Universitari Son Espases, 07120, Palma, Illes Balears, Spain., Chaudhry A; Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Madruga M; Hospital Viamed Santa Ángela De la Cruz, Sevilla, 41014, Spain., Vansenne F; Department of Clinical Genetics, University Medical Center, Groningen, 9713 GZ, Groningen, The Netherlands., Curie A; Reference Center for Intellectual Disability from rare causes, Department of Child Neurology, Woman Mother and Child Hospital, Hospices Civils de Lyon, Lyon Neuroscience Research Centre, CNRS UMR5292, INSERM U1028, Université de Lyon, Bron, France., Kajava AV; Centre de Recherche en Biologie Cellulaire de Montpellier (CRBM), University of Montpellier, CNRS, Montpellier, France., Baralle D; Faculty of Medicine, University of Southampton, Southampton, SO16 5YA, UK., Fassier C; Institut de la Vision, Sorbonne University, CNRS, INSERM, Paris, France., Debant A; Centre de Recherche en Biologie Cellulaire de Montpellier (CRBM), University of Montpellier, CNRS, Montpellier, France. anne.debant@crbm.cnrs.fr., Schmidt S; Centre de Recherche en Biologie Cellulaire de Montpellier (CRBM), University of Montpellier, CNRS, Montpellier, France. susanne.schmidt@crbm.cnrs.fr.
Publikováno v:
Molecular psychiatry [Mol Psychiatry] 2023 Apr; Vol. 28 (4), pp. 1527-1544. Date of Electronic Publication: 2023 Jan 30.
Autor:
Gazdagh G; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK., Mawby R; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Self JE; Clinical and Experimental Sciences Faculty of Medicine, University of Southampton, Southampton, UK.; Department of Ophthalmology, University Hospital Southampton NHS Trust, Southampton, UK., Baralle D; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Mar; Vol. 188 (3), pp. 900-906. Date of Electronic Publication: 2021 Nov 17.
Autor:
Urakawa, Tatsuki1,2 (AUTHOR), Soejima, Hidenobu3 (AUTHOR), Yamoto, Kaori4 (AUTHOR), Hara-Isono, Kaori1 (AUTHOR), Nakamura, Akie1 (AUTHOR), Kawashima, Sayaka1 (AUTHOR), Narusawa, Hiromune1 (AUTHOR), Kosaki, Rika5 (AUTHOR), Nishimura, Yutaka6 (AUTHOR), Yamazawa, Kazuki7 (AUTHOR), Hattori, Tetsuo8 (AUTHOR), Muramatsu, Yukako9 (AUTHOR), Inoue, Takanobu1,10 (AUTHOR), Matsubara, Keiko1,11 (AUTHOR), Fukami, Maki1 (AUTHOR), Saitoh, Shinji12 (AUTHOR), Ogata, Tsutomu4,13 (AUTHOR), Kagami, Masayo1 (AUTHOR) kagami-ms@ncchd.go.jp
Publikováno v:
Clinical Epigenetics. 10/5/2024, Vol. 16 Issue 1, p1-18. 18p.