about
Homozygous null mutation in ODZ3 causes microphthalmia in humansNeuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emergingMutations in LRPAP1 are associated with severe myopia in humansAn siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesAutozygosity mapping with exome sequence data.Novel mutations in MERTK associated with childhood onset rod-cone dystrophyMutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.Bilateral Duane syndrome and bilateral aniridia.Genetic and genomic analysis of classic aniridia in Saudi Arabia.Functional analysis of BBS3 A89V that results in non-syndromic retinal degenerationMeltMADGE for mutation scanning of specific genes in population studies.Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy.Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.Characterizing the morbid genome of ciliopathies.Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype.Infantile Nephropathic Cystinosis: A Novel CTNS Mutation.The enhanced S-cone syndrome in children.The enhanced S-cone syndrome in children.Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation.Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.Characterization of CTNS mutations in Arab patients with cystinosis.No evidence for locus heterogeneity in Knobloch syndrome.Homozygous truncation of SIX6 causes complex microphthalmia in humans.Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.Biometric and molecular characterization of clinically diagnosed posterior microphthalmos.Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.Mutations in ALDH1A3 cause microphthalmia.Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation.Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis.Corneal decompensation in recessive cornea plana.Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).Congenital glaucoma with acquired peripheral circumferential iris degeneration.Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype.Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Mohammed A Aldahmesh
@ast
Mohammed A Aldahmesh
@en
Mohammed A Aldahmesh
@es
Mohammed A Aldahmesh
@nl
Mohammed A Aldahmesh
@sl
type
label
Mohammed A Aldahmesh
@ast
Mohammed A Aldahmesh
@en
Mohammed A Aldahmesh
@es
Mohammed A Aldahmesh
@nl
Mohammed A Aldahmesh
@sl
altLabel
Mohammed Abdullah Aldahmesh
@en
prefLabel
Mohammed A Aldahmesh
@ast
Mohammed A Aldahmesh
@en
Mohammed A Aldahmesh
@es
Mohammed A Aldahmesh
@nl
Mohammed A Aldahmesh
@sl
P106
P21
P31
P496
0000-0003-0130-9029