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Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamicsNon-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease geneWNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.A case of infantile osteopetrosis: The radioclinical features with literature updateOrthopaedic manifestations of Proteus syndrome in a child with literature update.Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosisThe Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.TNF-α-308 G/A Polymorphism in Egyptian Budd-Chiari Syndrome Patients.Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.Prominent extensor truncal dystonia in Egyptian patients with Wilson's disease.Ribosomal protein S19 - 631 insertion is an African-originated mutation.Role of plasma amino acids and urinary organic acids in diagnosis of mitochondrial diseases in children.Correction:Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene.Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia.Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndromeFactor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Solaf Mohamed Elsayed
@ast
Solaf Mohamed Elsayed
@en
Solaf Mohamed Elsayed
@es
Solaf Mohamed Elsayed
@nl
Solaf Mohamed Elsayed
@sl
type
label
Solaf Mohamed Elsayed
@ast
Solaf Mohamed Elsayed
@en
Solaf Mohamed Elsayed
@es
Solaf Mohamed Elsayed
@nl
Solaf Mohamed Elsayed
@sl
prefLabel
Solaf Mohamed Elsayed
@ast
Solaf Mohamed Elsayed
@en
Solaf Mohamed Elsayed
@es
Solaf Mohamed Elsayed
@nl
Solaf Mohamed Elsayed
@sl
P106
P31
P496
0000-0003-3054-9929