Showing results (81-90 of 117) with videos related to

Sort By:
Pageof 12
Frontiers in Pediatrics|September 4, 2023
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapesQuentin Hennocq, Thomas Bongibault, Sandrine Marlin, et al.
European Journal of Human Genetics : EJHG|July 20, 2007
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chipMarianne Lévêque, Sandrine Marlin, Laurence Jonard, et al.
Human Mutation|January 16, 2007
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot regionElke M Botzenhart, Gabriella Bartalini, Edward Blair, et al.
American Journal of Human Genetics|December 5, 2017
Mutations in TUBB4B Cause a Distinctive Sensorineural DiseaseRomain Luscan, Sabrina Mechaussier, Antoine Paul, et al.
International Journal of Pediatric Otorhinolaryngology|July 13, 2010
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueductLaurence Jonard, Magali Niasme-Grare, Crystel Bonnet, et al.
Human Mutation|December 23, 2011
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severityPhilip B Daniel, Tim Morgan, Yasemin Alanay, et al.
Human Molecular Genetics|June 1, 2021
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing lossSissy Bassani, Edward van Beelen, Mireille Rossel, et al.
American Journal of Human Genetics|October 3, 2017
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis DiseasesAntoine Paul, Anthony Drecourt, Floriane Petit, et al.
American Journal of Medical Genetics. Part A|December 15, 2018
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritanceDaphné Lehalle, Umut Altunoglu, Ange-Line Bruel, et al.
European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.
Pageof 12