المقالات البحثية

SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family

SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family

SOX11-related syndrome: report on a new case and review

SOX11-related syndrome: report on a new case and review

Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon

Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon

A newly reported autosomal recessive syndrome

A newly reported autosomal recessive syndrome

Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3

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

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

Comments on the latest meta-analysis of CAPN10 polymorphism associations with PCOS

Report of a Second Lebanese Family with BVSY Syndrome: Possible Founder Mutation

Report of a Second Lebanese Family with BVSY Syndrome: Possible Founder Mutation

تحميل
Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review

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

The Lebanese Allele in the PET100 Gene: Report on New Families with Cytochrome c Oxidase Deficiency

تحميل
Expanded PCH1D phenotype linked to EXOSC9 mutation

Expanded PCH1D phenotype linked to EXOSC9 mutation

Identification of a novel homozygous UNC80 variant in a child with IHPRF2

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

COQ8A and MED25 Mutations in a Child with ID, Microcephaly, Seizures, and Spastic Ataxia

تحميل
A novel SOX18 mutation uncovered in Jordanian patient with HLTS by Whole Exome Sequencing

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)

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)

Biomedical science journals in the Arab world

Biomedical science journals in the Arab world

تحميل
CTGA: the database for genetic disorders in Arab populations

CTGA: the database for genetic disorders in Arab populations

تحميل
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family

Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family

تحميل
Genomewide Linkage Scan for SHFM with Long-Bone Deficiency in a Family

Genomewide Linkage Scan for SHFM with Long-Bone Deficiency in a Family

تحميل
Consanguinity and reproductive health among Arabs

Consanguinity and reproductive health among Arabs

تحميل
Cancers in Arab populations: Concise notes

Cancers in Arab populations: Concise notes

تحميل
A study in pleiotropy - Jalili syndrome

A study in pleiotropy - Jalili syndrome

تحميل
A novel, putatively null, FGD1 variant leading to Aarskog Scott syndrome in a family from UAE

A novel, putatively null, FGD1 variant leading to Aarskog Scott syndrome in a family from UAE

تحميل
Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference

Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference

تحميل
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs

Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs

Meta-analyses of the association of HLA-DRB1 alleles with rheumatoid arthritis among Arabs

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

Contribution of next generation sequencing in pediatric practicein Lebanon: A Study on 213 cases

تحميل
Novel splice-site mutation in WDR62 revealed by WES in a Sudanese family with primary microcephaly

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 nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome

A novel missense mutation in ATRX uncovered in a Yemeni family

A novel missense mutation in ATRX uncovered in a Yemeni family

Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis

Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis

Marinesco-Sjgren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5&#3

Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5&#3

تحميل
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation

Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation

The profile of HLA-DRB1 alleles in Arabs with type 1 diabetes; meta-analyses

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

Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case r

تحميل
Single-center experience of N-linked CDG with a Summary of Molecularly Characterized Cases in Arabs

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

Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome

Novel SPG20 mutation in an extended family with Troyer 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

A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child

تحميل
Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa

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

Genomics into Healthcare: the 5th Pan Arab Human Genetics Conference and 2013 Golden Helix Symposium

تحميل
Association of HLA-DQA1 and -DQB1 alleles with type I diabetes in Arabs: a meta-analyses

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

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

Molecular and clinical characterization of a CDKN1C mutation in an Emirati patient with BWS

تحميل
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