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Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

Autor: Wagner M; Institute of Human Genetics, Technical University München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute for Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany. Electronic address: Matias.Wagner@mri.tum.de., Skorobogatko Y; Department of Medicine, University of California, San Diego School of Medicine, La Jolla, CA 92093, USA., Pode-Shakked B; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel., Powell CM; Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, 27599, USA., Alhaddad B; Institute of Human Genetics, Technical University München, 81675 Munich, Germany., Seibt A; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany., Barel O; Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, 52621 Tel-Hashomer, Israel., Heimer G; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel., Hoffmann C; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Department of Radiology, Sheba Medical Center, 52621 Tel-Hashomer, Israel., Demmer LA; Medical Genetics, Atrium Health Levine Children's Hospital, Charlotte, NC, 28203, USA., Perilla-Young Y; Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, 27599, USA., Remke M; Department of Pediatric Oncology, Hematology, and Clinical Immunology, Medical Faculty, University Hospital Düsseldorf, 40225 Düsseldorf, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, 40225 Düsseldorf, Germany., Navaratnarajah T; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany., Lichtner P; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Klee D; Department of Diagnostic and Interventional Radiology, Heinrich-Heine University, 40225 Düsseldorf, Germany., Shamseldin HE; Department of Genetics, King Faisal Specialist Hospital and Research Center, 12713 Riyadh, Saudi Arabia., Al Mutairi F; Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, 12713 Riyadh, Saudi Arabia., Mayatepek E; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany., Strom T; Institute of Human Genetics, Technical University München, 81675 Munich, Germany., Meitinger T; Institute of Human Genetics, Technical University München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, 12713 Riyadh, Saudi Arabia., Anikster Y; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel., Saltiel AR; Department of Medicine, University of California, San Diego School of Medicine, La Jolla, CA 92093, USA., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany. Electronic address: felix.distelmaier@med.uni-duesseldorf.de.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Feb 06; Vol. 106 (2), pp. 246-255. Date of Electronic Publication: 2020 Jan 30.