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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 deafness
Asma Behlouli, Crystel Bonnet, Samia Abdi, et al.
Plos One
|
September 2, 2016
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome
Samia Abdi, Amel Bahloul, Asma Behlouli, et al.
EMBO Molecular Medicine
|
June 19, 2014
The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells
Elise Pepermans, Vincent Michel, Richard Goodyear, et al.
Plos One
|
March 24, 2015
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients
Zied Riahi, Crystel Bonnet, Rim Zainine, et al.
Retina (Philadelphia, Pa.)
|
September 4, 2019
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT
Samer Khateb, Saddek Mohand-Saïd, Marco Nassisi, et al.
Human Heredity
|
July 26, 2014
Specific aspects of consanguinity: some examples from the Tunisian population
Lilia Romdhane, Nizar Ben Halim, Insaf Rejeb, et al.
International Journal of Dermatology
|
April 26, 2019
A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene
Marwa Sayeb, Zied Riahi, Nadia Laroussi, et al.
Documenta Ophthalmologica. Advances in Ophthalmology
|
July 4, 2019
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study
Katarina Stingl, Anne Kurtenbach, Gesa Hahn, et al.
Current Eye Research
|
July 18, 2018
Usher Syndrome and Color Vision
Anne Kurtenbach, Gesa Hahn, Christoph Kernstock, et al.
Plos One
|
June 14, 2014
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness
Zied Riahi, Crystel Bonnet, Rim Zainine, et al.
Page
of 8
Search research articles
Search
Showing results (51-60 of 72) with videos related to
Sort By:
Page
of 8
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 deafness
Asma Behlouli, Crystel Bonnet, Samia Abdi, et al.
Plos One
|
September 2, 2016
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome
Samia Abdi, Amel Bahloul, Asma Behlouli, et al.
EMBO Molecular Medicine
|
June 19, 2014
The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells
Elise Pepermans, Vincent Michel, Richard Goodyear, et al.
Plos One
|
March 24, 2015
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients
Zied Riahi, Crystel Bonnet, Rim Zainine, et al.
Retina (Philadelphia, Pa.)
|
September 4, 2019
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT
Samer Khateb, Saddek Mohand-Saïd, Marco Nassisi, et al.
Human Heredity
|
July 26, 2014
Specific aspects of consanguinity: some examples from the Tunisian population
Lilia Romdhane, Nizar Ben Halim, Insaf Rejeb, et al.
International Journal of Dermatology
|
April 26, 2019
A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene
Marwa Sayeb, Zied Riahi, Nadia Laroussi, et al.
Documenta Ophthalmologica. Advances in Ophthalmology
|
July 4, 2019
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study
Katarina Stingl, Anne Kurtenbach, Gesa Hahn, et al.
Current Eye Research
|
July 18, 2018
Usher Syndrome and Color Vision
Anne Kurtenbach, Gesa Hahn, Christoph Kernstock, et al.
Plos One
|
June 14, 2014
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness
Zied Riahi, Crystel Bonnet, Rim Zainine, et al.
Page
of 8