المؤلفون: Monique Elmaleh-Bergès, Veronique Pingault, N. Noël-Pétroff, Vincent Couloigner, Emmanuelle Faubert, Nadege Bondurand, Natalie Loundon, H. Ducou Le Pointe, Viviane Baral, Françoise Denoyelle, Souad Gherbi, Sandrine Marlin

المصدر: Clinical Genetics. 88:352-359

مصطلحات موضوعية: Pathology, medicine.medical_specialty, medicine.diagnostic_test, Kallmann syndrome, Waardenburg syndrome, Hearing loss, Cochlear nerve, Anosmia, Magnetic resonance imaging, Anatomy, Biology, medicine.disease, Hyposmia, Temporal bone, otorhinolaryngologic diseases, Genetics, medicine, medicine.symptom, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::01690a40cd0a2cdc5610b85dc9f5d86eTest
https://doi.org/10.1111/cge.12506Test

المؤلفون: Clarisse Baumann, Yves Sznajer, Stanislas Lyonnet, Alain Verloes, Sylvette Wiener-Vacher, André Delahaye, Dominique Bremond-Gignac, Isabelle Delpierre, Damien Sanlaville, Sophie Audollent, Jeanne Amiel, Tania Attié-Bitach, Anne-Laure Mansbach, Monique Elmaleh-Bergès

المصدر: Clinical Genetics. 72:112-121

مصطلحات موضوعية: Heart Defects, Congenital, Male, Molecular Sequence Data, Nonsense mutation, Mutation, Missense, Deafness, Asymptomatic, Exon, CHARGE syndrome, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Family, Amino Acid Sequence, Genetics (clinical), Coloboma, business.industry, DNA Helicases, Genetic Variation, Infant, Sequence Analysis, DNA, Syndrome, medicine.disease, Pedigree, DNA-Binding Proteins, Mutation (genetic algorithm), Female, medicine.symptom, Haploinsufficiency, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e6b8e6809fab6cfa346ba73e65e1f2fTest
https://doi.org/10.1111/j.1399-0004.2007.00821.xTest