about
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndromeAn autoinflammatory disease with deficiency of the interleukin-1-receptor antagonistIndependent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk cultureThe Impact of Genetic Diseases on Jordanians: Strategies Towards PreventionPRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disordersMutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.Multivariate epidemiologic analysis of type 2 diabetes mellitus risks in the Lebanese population.Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4qMutations in prickle orthologs cause seizures in flies, mice, and humans.Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case reportA homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2Familial mediterranean fever in Arabs.A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitisT2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibilitySpectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population.Caffeine Impact on Metabolic Syndrome Components Is Modulated by a CYP1A2 Variant.The infevers autoinflammatory mutation online registry: update with new genes and functions.A splice site mutation confirms the role of LPIN2 in Majeed syndrome.The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series.Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation.The clinical spectrum of Henoch-Schönlein purpura in infants and young children.Neutrophil dysfunction in a family with a SAPHO syndrome-like phenotype.A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.Chronic recurrent multifocal osteomyelitis and deficiency of interleukin-1-receptor antagonist.Further delineation of El-Shanti syndrome.A clinical study of a large inbred kindred with pure familial spastic paraplegia.Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan.Effect of Desferrioxamine in Acute Haemolytic Anaemia of Glucose-6-Phosphate Dehydrogenase DeficiencyHenoch-Schonlein purpura and streptococcal infection: a prospective case-control studyThe effect of trifluoperazine on the genotoxicity of bleomycin in cultured human lymphocytesAlopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndromeBreakpoint localization using array-CGH in three siblings with an unbalanced 4q;16q translocation and childhood apraxia of speech (CAS)Consanguinity: implications for practice, research, and policy
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Q24310789-46D30AA1-D321-4E69-85DF-3C61F579E137Q24606097-C56E11A6-154A-471F-9E41-FF2EE04C058FQ24643704-A9305949-B234-4D52-80F7-62CC4A6A58B7Q24803412-DA72CA35-8BAA-41C3-BECF-67C328E57910Q27301760-0C99DCE3-93ED-49EE-817F-50AA63BF8BFAQ33803380-CD60D1E8-C4C7-478C-AAA5-4E89713BB443Q33872924-080D0BDE-F655-4FD7-9B0D-532D8CF2241CQ34016296-EA474D3A-1AFC-416C-876C-0F3A7A7C9B00Q34129988-81288DE0-226C-402D-A213-D8AC00A11768Q34145527-CBF009A6-309A-4FC6-AA15-228F6DBF8D88Q34560912-19E297D4-E515-42BB-8938-D4CF8A3F85BDQ35831233-603C180C-64EB-4897-833E-4B7F5DC18E6CQ36430774-BA49AAFF-0E55-4387-8F1F-770CC7050222Q36431512-6AC8ABDF-2725-4E4D-9D0C-AE4E5403AF91Q37053052-1FDDBF3D-3847-4215-9C8B-98D97A729447Q37733871-8B983BCD-987D-4570-9516-B03DDABFAFF9Q38864537-E3F2F8C7-1C07-48E3-B5CB-2A1AA416C1B9Q40296877-0FD0E3C3-C988-4C0F-8404-EF11E032493AQ40421899-7EAC90CC-008D-4A17-9D3E-52B7E681723FQ40456688-E94B5962-FAE7-4288-BE48-607E68F4B7AFQ40506669-D6121ECB-48BF-4A0C-82DF-9CBB5B089EDFQ43585433-8239A4D3-E4F5-40C8-BADB-3945FD6C650AQ44417047-08C91288-AD34-4E1D-9CA4-EBC4547AA6FDQ46343348-DC768793-C31F-4067-BFD7-A2ED9551910FQ46867079-A45E9B35-2CC2-4329-AFFA-74170DE6FE83Q46900889-C4C3FFFD-54A9-4382-9DA1-F3C6FA760D02Q47933726-DC25ACB8-1936-4705-8818-D9BAEB441D65Q48090352-634DAE5B-CE6D-4048-B066-AE6046B05299Q50487299-21E9305F-9F8E-4F66-8B09-AF88E3C58833Q61841499-C4E2B560-3E57-4CF9-A7D4-D111A899D645Q61841503-A48FE2DA-C6FF-40FD-B1B8-E44E05BC7E70Q73823651-E6AD3C31-A554-460B-873D-C1FD13469E71Q78675463-CB10F393-DD89-432D-A5DC-1C5203D39B21Q81727182-C68BCE0E-79CC-43A7-B335-3A8CE6BE1061Q82968651-9D7DAD05-6721-41C0-8F3A-FD837D78F183
P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Hatem El-shanti
@ast
Hatem El-shanti
@en
Hatem El-shanti
@es
Hatem El-shanti
@nl
Hatem El-shanti
@sl
type
label
Hatem El-shanti
@ast
Hatem El-shanti
@en
Hatem El-shanti
@es
Hatem El-shanti
@nl
Hatem El-shanti
@sl
altLabel
Elshanti
@en
prefLabel
Hatem El-shanti
@ast
Hatem El-shanti
@en
Hatem El-shanti
@es
Hatem El-shanti
@nl
Hatem El-shanti
@sl
P1053
P1053
O-5990-2014
Q-4924-2016
Q-4932-2016
P106
P21
P31
P3829
P496
0000-0001-6230-8316