about
Mutations in LRPAP1 are associated with severe myopia in humansA novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.Homozygous truncation of SIX6 causes complex microphthalmia in humans.Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.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.ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.Molecular characterization of Joubert syndrome in Saudi Arabia.Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype.CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.NECAP1 loss of function leads to a severe infantile epileptic encephalopathyExcessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndromeXq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic LocusXq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome
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P50
description
hulumtuese
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researcher
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հետազոտող
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name
Hadia Hijazi
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Hadia Hijazi
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Hadia Hijazi
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Hadia Hijazi
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Hadia Hijazi
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Hadia Hijazi
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Hadia Hijazi
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Hadia Hijazi
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Hadia Hijazi
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Hadia Hijazi
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P106
P21
P31
P496
0000-0002-2206-8730