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Importance of TREC and KREC as molecular markers for immunological evaluation of down syndrome children

Scientific reports, 2023-09, Vol.13 (1), p.15445-15445, Article 15445

2023

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Screening of GHSR, GHRHR, GH1 genes in isolated growth hormone deficiency disease in Egyptian patients

Egyptian Journal of Medical Human Genetics, 2024-12, Vol.25 (1), p.16, Article 16

2024

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Growth Charts for Egyptian Children with Achondroplasia

Journal of clinical and diagnostic research, 2019-05, Vol.13 (5), p.GC01-GC05

2019

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Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature

Molecular genetics & genomic medicine, 2021-02, Vol.9 (2), p.e1546-n/a

2021

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Growth charts of Down syndrome in Egypt: A study of 434 children 0–36 months of age

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2647-2655

2012

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Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect

Molecular genetics and genomics : MGG, 2022-05, Vol.297 (3), p.689-698

2022

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Genetic Implications in High-Risk Pregnancy and Its Outcome: A 2-Year Study

American journal of perinatology, 2022-11, Vol.39 (15), p.1659-1667

2022

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A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder

Neurological sciences, 2021-07, Vol.42 (7), p.2737-2745

2021

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Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature

Journal of pediatric genetics (Birmingham, Ala.), 2020-06, Vol.9 (2), p.109-113

2020

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First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations

Molecular syndromology, 2021-08, Vol.12 (5), p.279-288

2021

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Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: A rare co-occurrence with bipartite parietal bone

American journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.480-483

2014

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De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2418-2424

2015

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XX testicular disorder of sex development with Down syndrome: a rare association in an Egyptian patient

Middle East Journal of Medical Genetics, 2014-07, Vol.3 (2), p.70-75

2014

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Evaluating the role of inherited thrombophilia genes with recurrent pregnancy loss among Egyptian couples

Gene reports, 2021-12, Vol.25, p.101355, Article 101355

2021

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Unilateral Isolated Proximal Femoral Focal Deficiency in an Egyptian Infant and Review of Literature

Journal of child science, 2020-01, Vol.10 (1), p.e126-e133

2020

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Clinical Implications of S100A12 and Resolvin D1 Serum Levels, and Related Genes in Children with Familial Mediterranean Fever

Journal of child science, 2021-01, Vol.11 (1), p.e163-e169

2021

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Measurement of Serum Chemerin, Oxidized LDL, and Vitamin D Levels in Prader–Willi Syndrome: A Cross-Sectional Study in Pediatric Egyptian Patients

Journal of child science, 2020-01, Vol.10 (1), p.e187-e195

2020

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The association of +1150A polymorphism with low GH level in isolated growth hormone deficiency (IGHD) patients

Gene reports, 2019-03, Vol.14, p.118-123

2019

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Growth Charts of Down Syndrome in Egypt: A Sturdy of 434 Children 0―36 Months of Age

American journal of medical genetics. Part A, 2012, Vol.158 (11), p.2647-2655

2012

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Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature

Journal of pediatric genetics, 2020, Vol.9 (2), p.109-113

2020

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Growth charts of Down syndrome in Egypt: A study of 434 children 0-36 months of age

American Journal of Medical Genetics Part A, 2012, Vol.158A (11), p.2647-2655

2012

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A Phase 3, Randomized, Controlled Trial of Resmetirom in NASH with Liver Fibrosis

The New England journal of medicine, 2024-02, Vol.390 (6), p.497-509

2024

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Risk Factors for Intrahepatic and Extrahepatic Cholangiocarcinoma: A Hospital-Based Case-Control Study

The American journal of gastroenterology, 2007-05, Vol.102 (5), p.1016-1021

2007

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Obeticholic acid for the treatment of non-alcoholic steatohepatitis: interim analysis from a multicentre, randomised, placebo-controlled phase 3 trial

The Lancet (British edition), 2019-12, Vol.394 (10215), p.2184-2196

2019

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Inhibition of human monoamine oxidase A and B by flavonoids isolated from two Algerian medicinal plants

Phytomedicine (Stuttgart), 2018-02, Vol.40, p.27-36

2018

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Importance of TREC and KREC as molecular markers for immunological evaluation of down syndrome children

Screening of GHSR, GHRHR, GH1 genes in isolated growth hormone deficiency disease in Egyptian patients

Growth Charts for Egyptian Children with Achondroplasia

Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature

Growth charts of Down syndrome in Egypt: A study of 434 children 0–36 months of age

Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect

Genetic Implications in High-Risk Pregnancy and Its Outcome: A 2-Year Study

A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder

Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations

Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: A rare co-occurrence with bipartite parietal bone

De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features

XX testicular disorder of sex development with Down syndrome: a rare association in an Egyptian patient

Evaluating the role of inherited thrombophilia genes with recurrent pregnancy loss among Egyptian couples

Unilateral Isolated Proximal Femoral Focal Deficiency in an Egyptian Infant and Review of Literature

Clinical Implications of S100A12 and Resolvin D1 Serum Levels, and Related Genes in Children with Familial Mediterranean Fever

Measurement of Serum Chemerin, Oxidized LDL, and Vitamin D Levels in Prader–Willi Syndrome: A Cross-Sectional Study in Pediatric Egyptian Patients

The association of +1150A polymorphism with low GH level in isolated growth hormone deficiency (IGHD) patients

Growth Charts of Down Syndrome in Egypt: A Sturdy of 434 Children 0―36 Months of Age

Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature

Growth charts of Down syndrome in Egypt: A study of 434 children 0-36 months of age

A Phase 3, Randomized, Controlled Trial of Resmetirom in NASH with Liver Fibrosis

Risk Factors for Intrahepatic and Extrahepatic Cholangiocarcinoma: A Hospital-Based Case-Control Study

Obeticholic acid for the treatment of non-alcoholic steatohepatitis: interim analysis from a multicentre, randomised, placebo-controlled phase 3 trial

Inhibition of human monoamine oxidase A and B by flavonoids isolated from two Algerian medicinal plants

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