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European Journal of Medical Genetics|September 6, 2011
Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotypeLaurence Jonard, Vincent Couloigner, Sébastien Pierrot, et al.
Cerebellum & Ataxias|February 4, 2016
Benign hereditary chorea, not only chorea: a family case presentationJeanette Koht, Sven Olav Løstegaard, Iselin Wedding, et al.
The Turkish Journal of Pediatrics|April 7, 2018
A rare large mutation involving two exons of the SP-B gene in an infant with severe respiratory distressŞahin Takcı, Deniz Anuk-İnce, Malek Louha, et al.
Pediatric Pulmonology|December 19, 2013
Survival of an infant with homozygous surfactant protein C (SFTPC) mutationZeynep Arıkan-Ayyıldız, Sule Caglayan-Sozmen, Sakine Isık, et al.
Molecular Genetics & Genomic Medicine|June 2, 2015
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencingFatima Ammar-Khodja, Crystel Bonnet, Malika Dahmani, et al.
International Journal of Pediatric Otorhinolaryngology|July 3, 2016
A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian familyAsma Behlouli, Crystel Bonnet, Samia Abdi, et al.
International Journal of Pediatric Otorhinolaryngology|July 30, 2018
Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa provinceSonia Talbi, Crystel Bonnet, Zied Riahi, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|November 16, 2013
Discovery of a large deletion of KAL1 in 2 deaf brothersSandrine Marlin, Sandra Chantot-Bastaraud, Albert David, et al.
Pediatric Pulmonology|September 27, 2017
The IL-4 rs2070874 polymorphism may be associated with the severity of recurrent viral-induced wheezeFlore Amat, Malek Louha, Marta Benet, et al.
Orphanet Journal of Rare Diseases|April 19, 2014
EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafnessAsma Behlouli, Crystel Bonnet, Samia Abdi, et al.
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