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Research Articles
A Report on a Family with TMTC3-Related Syndrome and Review
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SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family
SOX11-related syndrome: report on a new case and review
Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon
A newly reported autosomal recessive syndrome
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3
Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome
Comments on the latest meta-analysis of CAPN10 polymorphism associations with PCOS
Report of a Second Lebanese Family with BVSY Syndrome: Possible Founder Mutation
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Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review
The Lebanese Allele in the PET100 Gene: Report on New Families with Cytochrome c Oxidase Deficiency
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Expanded PCH1D phenotype linked to EXOSC9 mutation
Identification of a novel homozygous UNC80 variant in a child with IHPRF2
COQ8A and MED25 Mutations in a Child with ID, Microcephaly, Seizures, and Spastic Ataxia
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A novel SOX18 mutation uncovered in Jordanian patient with HLTS by Whole Exome Sequencing
A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)
Biomedical science journals in the Arab world
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CTGA: the database for genetic disorders in Arab populations
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Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family
Genomewide Linkage Scan for SHFM with Long-Bone Deficiency in a Family
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Consanguinity and reproductive health among Arabs
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Cancers in Arab populations: Concise notes
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A study in pleiotropy - Jalili syndrome
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A novel, putatively null, FGD1 variant leading to Aarskog Scott syndrome in a family from UAE
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Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference
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Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs<br />
Meta-analyses of the association of HLA-DRB1 alleles with rheumatoid arthritis among Arabs.
Contribution of next generation sequencing in pediatric practicein Lebanon: A Study on 213 cases
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Novel splice-site mutation in WDR62 revealed by WES in a Sudanese family with primary microcephaly
A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome
A novel missense mutation in ATRX uncovered in a Yemeni family
Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis
Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5
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Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation
The profile of HLA-DRB1 alleles in Arabs with type 1 diabetes; meta-analyses
Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case r
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Single-center experience of N-linked CDG with a Summary of Molecularly Characterized Cases in Arabs
Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome
Novel SPG20 mutation in an extended family with Troyer syndrome
A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child
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Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa
Genomics into Healthcare: the 5th Pan Arab Human Genetics Conference and 2013 Golden Helix Symposium
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Association of HLA-DQA1 and -DQB1 alleles with type I diabetes in Arabs: a meta-analyses
Identification of a Novel INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the UAE
Molecular and clinical characterization of a CDKN1C mutation in an Emirati patient with BWS
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