The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.
Autorzy:
Grether A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. Ivanovski I; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. Russo M; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. Begemann A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. SteindlK; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. Abela L; Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland. Papik M; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. Zweier M; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. Oneda B; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland. Rauch A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; University Children's Hospital Zurich, Zurich, Switzerland.; University of Zurich Clinical Research Priority Program (CRPP) Praeclare - Personalized prenatal and reproductive medicine, Zurich, Switzerland.; University of Zurich Research Priority Program (URPP) AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich, Switzerland.; University of Zurich Research Priority Program (URPP) ITINERARE: Innovative Therapies in Rare Diseases, Zurich, Switzerland.
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Autorzy:
Lang E; Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland. Koller S; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland. Atac D; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland. Pfäffli OA; Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich, Switzerland. Hanson JVM; Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich, Switzerland. Feil S; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland. Bähr L; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland. Bahr A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. Kottke R; Department of Diagnostic Imaging, University Children's Hospital Zurich, Zurich, Switzerland. Joset P; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. Fasler K; Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich, Switzerland. Barthelmes D; Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.; Save Sight Institute, The University of Sydney, Sydney, NSW, Australia. SteindlK; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. Konrad D; Department of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland. Wille DA; Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland. Berger W; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.; Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland. Gerth-Kahlert C; Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.
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Źródło:
Acta ophthalmologica [Acta Ophthalmol] 2021 Jun; Vol. 99 (4), pp. e594-e607. Date of Electronic Publication: 2020 Sep 30.
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