A.U. Rehman

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Articles (5)

Co-auteur

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Mot-clé

maladie (4) Diseases (4) Human beings (4) Diseases (4) maladie (4) roman (4) mutation (3) ADN (3) Retinal (Visual pigment) (3) Patients (3) Families (3) DNA (3) Patients (3) Mutation (3) association (2) analyse (2) gène (2) famille (2) effet (2) Phenotype (2) Genes (2) Social groups (2) Population (2) Heterozygosity (2) Eye (2) Example (2) Blindness (2) Addition (2) Analysis (2) Population (2)

Documents écrit par A.U. Rehman (5) | parle de A.U. Rehman (0)

A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing.
M. Ullah et al. (2023)
New variants and in silico analyses in GRK1 associated Oguchi disease.
J.A. Poulter et al.
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.
A.U. Rehman et al. (21 déc. 2019)
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
K. Nikopoulos et al. (28 juin 2019)
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
A.U. Rehman et al.