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1.
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.
Clin Genet
; 2024 Mar 11.
Article
in English
| MEDLINE | ID: mdl-38468396
2.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Am J Hum Genet
; 106(6): 859-871, 2020 06 04.
Article
in English
| MEDLINE | ID: mdl-32470375
3.
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.
Brain
; 142(6): 1528-1534, 2019 06 01.
Article
in English
| MEDLINE | ID: mdl-31009037
4.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Am J Hum Genet
; 107(3): 580, 2020 09 03.
Article
in English
| MEDLINE | ID: mdl-32888510
5.
Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular syndrome type1; a case report.
Ophthalmic Genet
; 45(1): 59-62, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37017251
6.
Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations.
Saudi J Ophthalmol
; 37(4): 307-309, 2023.
Article
in English
| MEDLINE | ID: mdl-38155680
7.
Unique Roberts syndrome with bilateral congenital glaucoma: A case report.
World J Clin Cases
; 11(19): 4635-4639, 2023 Jul 06.
Article
in English
| MEDLINE | ID: mdl-37469722
8.
Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient: a case report.
Ophthalmic Genet
; 43(3): 425-429, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35188035
9.
Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) associated with congenital glaucoma: A case report.
Eur J Ophthalmol
; 32(1): NP66-NP70, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-33147988
10.
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Sci Rep
; 10(1): 1289, 2020 Jan 28.
Article
in English
| MEDLINE | ID: mdl-31992737
11.
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.
Invest Ophthalmol Vis Sci
; 56(3): 1701-10, 2015 Feb 12.
Article
in English
| MEDLINE | ID: mdl-25678693
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