TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.

Van De Weghe, Julie C; Giordano, Jessica L; Mathijssen, Inge B; Mojarrad, Majid; Lugtenberg, Dorien; Miller, Caitlin V; Dempsey, Jennifer C; Mohajeri, Mahsa Sadat Asl; van Leeuwen, Elizabeth; Pajkrt, Eva; Klaver, Caroline C W; Houlden, Henry; Eslahi, Atieh; Waters, Aoife M; Bamshad, Michael J; Nickerson, Deborah A; Aggarwal, Vimla S; de Vries, Bert B A; Maroofian, Reza; Doherty, Dan

Van De Weghe, Julie C; Giordano, Jessica L; Mathijssen, Inge B; Mojarrad, Majid; Lugtenberg, Dorien; Miller, Caitlin V; Dempsey, Jennifer C; Mohajeri, Mahsa Sadat Asl; van Leeuwen, Elizabeth; Pajkrt, Eva; Klaver, Caroline C W; Houlden, Henry; Eslahi, Atieh; Waters, Aoife M; Bamshad, Michael J; Nickerson, Deborah A; Aggarwal, Vimla S; de Vries, Bert B A; Maroofian, Reza; Doherty, Dan.

Afiliación

Van De Weghe JC; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Giordano JL; Department of OB/GYN, Columbia University Vagelos College of Physicians and Surgeons, New York, NY 10032, USA.
Mathijssen IB; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
Mojarrad M; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Lugtenberg D; Genetic Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Miller CV; Genetic Center of Khorasan Razavi, Mashhad, Iran.
Dempsey JC; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Mohajeri MSA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
van Leeuwen E; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Pajkrt E; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Klaver CCW; Department of Obstetrics and Gynecology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
Houlden H; Department of Obstetrics and Gynecology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
Eslahi A; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.
Waters AM; Department of Neuromuscular Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Bamshad MJ; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Nickerson DA; Great Ormond Street Hospital NHS Foundation Trust, London WC1N 1LE, UK.
de Vries BBA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Maroofian R; University of Washington Center for Mendelian Genomics, Seattle, WA 98195, USA.
Doherty D; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

HGG Adv ; 2(1)2021 Jan 14.

Article en En | MEDLINE | ID: mdl-33791682

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Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: HGG Adv Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos

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