Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Kievit AJA"'
Publikováno v:
Tijdschrift voor Psychiatrie, 59(8), 474-481
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::4c277800f6c83b12e257acd5ca8f069d
https://pure.eur.nl/en/publications/ac7121ca-0bd1-4b95-bb2f-2627b4ba5ba4
https://pure.eur.nl/en/publications/ac7121ca-0bd1-4b95-bb2f-2627b4ba5ba4
Autor:
Mirjam Langeveld, Domenico Di Raimondo, Lena H.P. Vroegindeweij, Janneke G. Langendonk, J. H. Paul Wilson, Agnita J.W. Boon, Mels Hoogendoorn, Anneke J.A. Kievit
Publikováno v:
Parkinsonism & Related Disorders, 36, 33-40. Elsevier
Introduction The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients prognosis is poor, disabilities are severe and patients often die young. The aim of our study was to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cc8c80d2fff864a48e371dfdbd3041d
https://pure.eur.nl/en/publications/fc8483f8-ce4d-44ae-b497-57421e994ad9
https://pure.eur.nl/en/publications/fc8483f8-ce4d-44ae-b497-57421e994ad9
Autor:
de Muijnck C; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Ophthalmology, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Everdingen JAM; Department of Neuro-Ophthalmology, The Rotterdam Eye Hospital, Rotterdam, The Netherlands., Lushchyk T; Department of Neuro-Ophthalmology, The Rotterdam Eye Hospital, Rotterdam, The Netherlands., Heutinck PAT; Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Dooren MF; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Kievit AJA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Verhoeven VJM; Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Wasmann RA; Department of Ophthalmology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Notting IC; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., De Baere E; Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Walraedt S; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium., De Zaeytijd J; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium., Van den Broeck F; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Ghent University, Ghent, Belgium., Leroy BP; Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Ghent University, Ghent, Belgium., Boon CJF; Department of Ophthalmology, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., van Genderen MM; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands. mvgenderen@bartimeus.nl.; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands. mvgenderen@bartimeus.nl.
Publikováno v:
Scientific reports [Sci Rep] 2024 Oct 03; Vol. 14 (1), pp. 22956. Date of Electronic Publication: 2024 Oct 03.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Autor:
Bassani S; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland.; Present address: Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Chrast J; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland., Ambrosini G; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Voisin N; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland.; Present address: Sophia Genetics, St Sulpice, Switzerland., Schütz F; Biostatistics Platform, University of Lausanne, Lausanne, Switzerland., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126, Turin, Italy.; Medical Genetics Unit, Città Della Salute E Della Scienza University Hospital, 10126, Turin, Italy., Sirchia F; Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126, Turin, Italy.; Medical Genetics Unit, Città Della Salute E Della Scienza University Hospital, 10126, Turin, Italy.; Present address: Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Present address: Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Turban L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schubert S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schlump JU; Department of Pediatrics, Centre for Neuromedicine, Gemeinschaftskrankenhaus Herdecke Gerhard-Kienle-Weg, Herdecke, Germany., DeMille D; Genomics Analysis 396, ARUP Laboratories, Salt Lake City, UT, USA., Bayrak-Toydemir P; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Nelson GR; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Wong KN; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Duncan L; Department of Pediatrics, Medical Center North, Vanderbilt University Medical Center, Nashville, TN, USA.; Present address: Mayo Clinic, Rochester, MN, USA., Mosera M; Department of Pediatrics, Medical Center North, Vanderbilt University Medical Center, Nashville, TN, USA., Gilissen C; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Kersseboom R; Center for Genetic Developmental Disorders Southwest, Zuidwester, Middelharnis, The Netherlands., Yttervik H; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Hansen GÅM; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Smeland MF; Department of Pediatric Rehabilitation, University Hospital of North Norway, Tromsø, Norway., Butler KM; Greenwood Genetic Center, Greenwood, SC, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, SC, USA., Carvalho CMB; Pacific Northwest Research Institute (PNRI), Broadway, Seattle, WA, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Zhang C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Flores-Gallegos L; Hospital Ángeles Puebla, Puebla, Mexico., Morales-Toquero R; Hospital Ángeles Puebla, Puebla, Mexico., Petit F; CHU Lille, Clinique de Génétique, 59000, Lille, France., Yalcin B; Inserm UMR1231, University of Burgundy, 21000, Dijon, France., Tuttle A; GeneDx, Gaithersburg, MD, USA., Elloumi HZ; GeneDx, Gaithersburg, MD, USA., McCormick L; Department of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, TX, USA., Kukolich M; Department of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, TX, USA., Klaas O; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Horvath J; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Scala M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, 16132, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Operto F; Department of Medicine, Child and Adolescent Neuropsychiatry Unit, Surgery and Dentistry, University of Salerno, Salerno, Italy., Zara F; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, 16132, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Writzl K; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Haanpää MK; Department of Genomics, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Pohjola P; Department of Genomics, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Arikka H; Department of Pediatric Neurology, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Calandrini C; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Iseli C; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Guex N; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Reymond A; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland. alexandre.reymond@unil.ch.
Publikováno v:
Genome medicine [Genome Med] 2024 May 30; Vol. 16 (1), pp. 72. Date of Electronic Publication: 2024 May 30.
Autor:
Dekker J; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Schot R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Bongaerts M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., de Valk WG; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van Veghel-Plandsoen MM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Monfils K; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Douben H; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Elfferich P; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Kasteleijn E; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van Unen LMA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Geeven G; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Saris JJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van Ierland Y; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Verheijen FW; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van der Sterre MLT; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Sadeghi Niaraki F; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Smits DJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Huidekoper HH; Department of Pediatrics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Williams M; Department of Pediatrics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Wilke M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Verhoeven VJM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Joosten M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Hoogeveen-Westerveld M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Nellist M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Mancini GMS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van Ham TJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands. Electronic address: t.vanham@erasmusmc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2023 Feb 02; Vol. 110 (2), pp. 251-272. Date of Electronic Publication: 2023 Jan 19.
Autor:
Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Truijen KMG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., van de Ven S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Bernier R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA., Bongers EMHF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., de Graaff-Herder L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Eichler EE; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., De Geus CM; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., van Hagen JM; Department of Human Genetics, Amsterdam UMC location Vrije Universiteit Amsterdam, Boelelaan 1117, Amsterdam, The Netherlands., Jansen PR; Department of Human Genetics, Amsterdam UMC location Vrije Universiteit Amsterdam, Boelelaan 1117, Amsterdam, The Netherlands.; Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands., Kerkhof J; 1Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada., Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Maas SM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., de Man SA; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands., McConkey H; 1Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada., Patterson WG; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Dobson AT; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Sadikovic B; 1Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A3K7, Canada., Relator R; 1Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A3K7, Canada., Stevenson RE; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Stumpel CTRM; Department of Clinical Genetics, MUMC, Maastricht, The Netherlands.; GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, Netherlands., Heijligers M; Department of Clinical Genetics, MUMC, Maastricht, The Netherlands., Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Löhner K; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Zeidler S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Lee JA; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Lindy A; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA., Zou F; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA., Tedder ML; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands. Bert.deVries@radboudumc.nl.
Publikováno v:
Translational psychiatry [Transl Psychiatry] 2022 Oct 01; Vol. 12 (1), pp. 421. Date of Electronic Publication: 2022 Oct 01.
Autor:
Haarman AEG; Department of Ophthalmology, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus MC, 3000 CA, Rotterdam, The Netherlands., Thiadens AAHJ; Department of Ophthalmology, Erasmus MC, 3000 CA, Rotterdam, The Netherlands., van Tienhoven M; Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands., Loudon SE; Department of Ophthalmology, Erasmus MC, 3000 CA, Rotterdam, The Netherlands., de Klein JEMMA; Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands., Brosens E; Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands., Polling JR; Department of Ophthalmology, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Department of Orthoptics, School of Applied Science Utrecht, 3584 CH, Utrecht, The Netherlands., van der Schoot V; Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands., Bouman A; Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands., Kievit AJA; Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands., Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands., Klaver CCW; Department of Ophthalmology, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Department of Ophthalmology, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.; Molecular research Center, Institute of Molecular and Clinical Ophthalmology, University of Basel, 4056, Switzerland., Verhoeven VJM; Department of Ophthalmology, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2022 Sep 29; Vol. 31 (19), pp. 3290-3298.
Autor:
Mencke P; Translational Neuroscience, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg., Boussaad I; Translational Neuroscience, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg., Önal G; Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford OX1 3QX, United Kingdom., Kievit AJA; Erasmus MC, University Medical Center Rotterdam, Dept. Clinical Genetics, Rotterdam the Netherlands., Boon AJW; Erasmus MC, University Medical Center Rotterdam, Dept. Neurology, Rotterdam the Netherlands., Mandemakers W; Erasmus MC, University Medical Center Rotterdam, Dept. Clinical Genetics, Rotterdam the Netherlands., Bonifati V; Erasmus MC, University Medical Center Rotterdam, Dept. Clinical Genetics, Rotterdam the Netherlands., Krüger R; Translational Neuroscience, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg; Parkinson Research Clinic, Centre Hospitalier de Luxembourg (CHL), Luxembourg; Transversal Translational Medicine, Luxembourg Institute of Health (LIH), Luxembourg. Electronic address: rejko.krueger@uni.lu.
Publikováno v:
Stem cell research [Stem Cell Res] 2022 Jul; Vol. 62, pp. 102792. Date of Electronic Publication: 2022 Apr 26.
Autor:
van Mazijk R; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Haarman AEG; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands., Hoefsloot LH; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Polling JR; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands., van Tienhoven M; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Klaver CCW; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.; Institute of Molecular and Clinical Ophthalmology, University of Basel, Basel, Switzerland., Verhoeven VJM; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands., Loudon SE; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands., Thiadens AAHJ; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands., Kievit AJA; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
Publikováno v:
Human mutation [Hum Mutat] 2022 Mar; Vol. 43 (3), pp. 380-388. Date of Electronic Publication: 2022 Jan 19.
Autor:
Polla DL; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; CAPES Foundation, Ministry of Education of Brazil, Brasília, Brazil., Edmondson AC; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Duvet S; Université de Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, F-59000 Lille, France., March ME; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Sousa AB; Serviço de Genética Médica, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, 649-035 Lisboa, Portugal; Faculdade de Medicina da Universidade de Lisboa, 1649-028 Lisboa, Portugal., Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada., Niyazov D; Tulane School of Medicine, University of Queensland, 1315 Jefferson Highway, New Orleans, LA 70121, USA., van Dijk F; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Watford Road, Harrow, HA1 3UJ London, UK., Demirdas S; Department of Clinical Genetics, Erasmus University Medical Center, 3015 Rotterdam, the Netherlands., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus University Medical Center, 3015 Rotterdam, the Netherlands., Kievit AJA; Department of Clinical Genetics, Erasmus University Medical Center, 3015 Rotterdam, the Netherlands., Schulz C; Université de Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, F-59000 Lille, France., Armstrong L; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada., Bi X; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Rader DJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Izumi K; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Zackai EH; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., de Franco E; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, EX2 5DW Exeter, UK., Jorge P; Centro de Genética Médica Jacinto de Magalhães, Centro Hospitalar do Porto, CHP, E.P.E., 4099-028 Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto, 4099-028 Porto, Portugal., Huffels SC; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Hommersom M; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Ellard S; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, EX2 5DW Exeter, UK; College of Medicine and Health, University of Exeter, Barrack Road, EX2 5DW Exeter, UK., Lefeber DJ; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Santani A; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Hand NJ; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., He M; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: hem@email.chop.edu., de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: arjan.debrouwer@radboudumc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Jul 01; Vol. 108 (7), pp. 1342-1349. Date of Electronic Publication: 2021 Jun 17.