المؤلفون: Aurélie Pham, Frédéric Brioude, Marilyne Le Jules Fernandes, Marie-Laure Sobrier, Eloise Giabicani, Irène Netchine, Delphine Mitanchez

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Genetics, Chromosome 7 (human), Silver–Russell syndrome, Calcium-Binding Proteins, Infant, Newborn, Membrane Proteins, Chromosome, Biology, medicine.disease, Phenotype, Article, Silver-Russell Syndrome, Infant, Small for Gestational Age, Mutation, medicine, Humans, Small for gestational age, Female, Imprinting (psychology), Allele, Genomic imprinting, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99f543d2a7a3de94e626ecad1b7bbeb6Test
https://doi.org/10.1038/s41431-021-00927-5Test

المؤلفون: Frédéric Brioude, Edouard Cottereau, Marie-Pierre Moizard, Annick Toutain, Marie-Laure Vuillaume, Alessandra Baumer, Anita Rauch

المساهمون: University of Zurich, Toutain, Annick

المصدر: European Journal of Human Genetics. 27:663-668

مصطلحات موضوعية: Heart Defects, Congenital, Male, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, 610 Medicine & health, Disease, Biology, Gigantism, 03 medical and health sciences, Glypicans, 1311 Genetics, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Genetic Testing, Gene, Genetics (clinical), Genetic testing, 0303 health sciences, medicine.diagnostic_test, 030305 genetics & heredity, Chromosome, Arrhythmias, Cardiac, Genetic Diseases, X-Linked, Simpson–Golabi–Behmel syndrome, medicine.disease, Phenotype, Clinical Utility Gene Card, Mutation, Clinical validity, 570 Life sciences, biology, Female

وصف الملف: s41431-019-0339-z.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3a39bdf59c80ea64f61a2362d28c0d0Test
https://doi.org/10.1038/s41431-019-0339-zTest

المؤلفون: Tania Attié-Bitach, Pierre-Simon Jouk, Frédéric Brioude, Judith Melki, Sophie Julia, Abdelaziz Sefiani, Sophie Naudion, Stephen Stamm, Jennifer Fabre-Teste, Christine Francannet, Sébastien Mur, Muriel Holder-Espinasse, Nicole Revencu, Tiffany Busa, Marine Legendre, Alain Kitzis, Stanislas Lyonnet, Jeanne Amiel, Frédéric Bilan, Patricia Blanchet, Yassamine Doubaj, Massimiliano Rossi, Brigitte Gilbert-Dussardier, Marie-Ange Delrue, Montserrat Rodríguez-Ballesteros, Véronique Abadie

المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc

المصدر: European Journal of Human Genetics, Vol. 26, no. 2, p. 287-292 (2018)

مصطلحات موضوعية: Male, 0301 basic medicine, Sequence analysis, In silico, Computational biology, Biology, Real-Time Polymerase Chain Reaction, Brief Communication, 03 medical and health sciences, CHARGE syndrome, 0302 clinical medicine, Genetics, medicine, Humans, Genetics(clinical), Child, Genetics (clinical), DNA Helicases, Genetic disorder, Computational Biology, Sequence Analysis, DNA, medicine.disease, DNA-Binding Proteins, RNA Splice Sites, 030104 developmental biology, Chd7 gene, Mutation, RNA splicing, CHARGE Syndrome, 030217 neurology & neurosurgery, Minigene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7c2a5056427b4862b6cb6c4ff53a9b0Test
https://doi.org/10.1038/s41431-017-0007-0Test