Výsledky vyhledávání - "basic helix–loop

Akademický článek

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Autor: Le C; Department of Neurology, 675 Nelson Rising Lane, University of California San Francisco San Francisco, California, 94158, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, 94158, USA., Argilli E; Department of Neurology, 675 Nelson Rising Lane, University of California San Francisco San Francisco, California, 94158, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, 94158, USA., George E; Department of Radiology and Biomedical Imaging, University of California San Francisco, California, 94122, USA., Kalaycı T; Istanbul University, Istanbul Faculty of Medicine, Medical Genetics Department, Istanbul, Turkey., Uyguner ZO; Istanbul University, Istanbul Faculty of Medicine, Medical Genetics Department, Istanbul, Turkey., Karaman B; Istanbul University, Istanbul Faculty of Medicine, Medical Genetics Department, Istanbul, Turkey.; Istanbul University, Child Health Institute, Basic Pediatric Science, Istanbul, Turkey., Demirören T; Yeditepe University, Faculty of Medicine Department, Department of Obstetrics and Gynecology, Istanbul, Turkey., Heron D; Assistance Publique-Hôpitaux de Paris Sorbonne Université (Pitié Salpêtrière et Trousseau), Paris, France., Sabatier I; Department of Pediatric Neurology, Hôpital Femme Mère Enfant, Lyon, France., Rodan LH; Division of Genetics and Genomics and Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, 02115, USA., Girisha KM; Suma Genomics Private Limited, Manipal, India.; Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Radhakrishnan P; Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, Missouri, 64108, USA.; University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, 64108, USA., Sullivan B; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, Missouri, 64108, USA.; University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, 64108, USA., Fleming E; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, Missouri, 64108, USA.; University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, 64108, USA., Alvi JR; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan., Sultan T; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan., Houlden H; Department of Neuromuscular Disorders, University College London (UCL) Queen Square Institute of Neurology, London, United Kingdom., Efthymiou S; Department of Neuromuscular Disorders, University College London (UCL) Queen Square Institute of Neurology, London, United Kingdom., Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, 20877, USA., Goodman M; Ochsner Health System, New Orleans, Louisiana, 70121, USA., Pierron L; Sorbonne Université, University Hospital Pitié-Salpêtrière, Assistance Publique-Ho-pitaux de Paris, Department of Medical Genetics, Paris, France., De Sainte-Agathe JM; Sorbonne Université, University Hospital Pitié-Salpêtrière, Assistance Publique-Ho-pitaux de Paris, Department of Medical Genetics, Paris, France., Durr A; Sorbonne Université, Paris Brain Institute - Institut du Cerveau, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Assistance Publique-Ho-pitaux de Paris, University Hospital Pitié-Salpe-trière, Paris, France., Sherr EH; Department of Neurology, 675 Nelson Rising Lane, University of California San Francisco San Francisco, California, 94158, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, 94158, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Oct 30. Date of Electronic Publication: 2024 Oct 30.

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