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Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

Proceedings of the National Academy of Sciences - PNAS, 2020-06, Vol.117 (24), p.13680-13688

2020

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Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature

The Egyptian journal of medical human genetics, 2020-09, Vol.21 (1), p.47

2020

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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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Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly

Molecular genetics & genomic medicine, 2021-11, Vol.9 (11), p.e1829-n/a

2021

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Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II

Hormones (Athens, Greece), 2024-06, Vol.23 (2), p.305-312

2024

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Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review

Sexual development, 2020-10, Vol.13 (5-6), p.221-227

2020

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Unbalanced 14;X Translocation and Pattern of X Inactivation in a Female Patient with Multiple Congenital Anomalies

Cytogenetic and genome research, 2018-01, Vol.156 (2), p.71-79

2018

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Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia

Sexual development, 2017-01, Vol.11 (5-6), p.275-279

2017

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Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation

Molecular syndromology, 2020-12, Vol.11 (5-6), p.284-295

2020

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Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients

Journal of sexual medicine, 2017-09, Vol.14 (9), p.1165-1174

2017

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An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization

Journal of assisted reproduction and genetics, 2018-08, Vol.35 (8), p.1503-1508

2018

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Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.1050-1058

2016

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Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development

Sexual development, 2018-01, Vol.12 (5), p.211-217

2018

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Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant

Journal of pediatric genetics (Birmingham, Ala.), 2021-06, Vol.10 (2), p.131-138

2021

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Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation

Sexual development, 2016-02, Vol.9 (5), p.279-288

2016

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46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in the HSD17B3 Gene

Sexual development, 2014-01, Vol.8 (4), p.151-155

2014

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Constitutional retinoblastoma gene deletion in Egyptian patients

World journal of pediatrics : WJP, 2009-08, Vol.5 (3), p.222-225

2009

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Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant

Journal of pediatric genetics, 2021, Vol.10 (2), p.131-138

2021

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Unbalanced 14;X Translocation and Pattern of X Inactivation in a Female Patient with Multiple Congenital Anomalies

Cytogenetic and genome research, 2018, Vol.156 (2), p.71-79

2018

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Self-Standing Pd-Based Nanostructures for Electrocatalytic CO Oxidation: Do Nanocatalyst Shape and Electrolyte pH Matter?

International journal of molecular sciences, 2023-07, Vol.24 (14), p.11832

2023

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Self-standing foam-like Pd-based alloys nanostructures for efficient electrocatalytic ethanol oxidation

International journal of hydrogen energy, 2023-09, Vol.48 (78), p.30354-30364

2023

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Significant Interrelations among Serum Annexin A1, Soluble Receptor for Advanced Glycation End Products (sRAGE) and rs2070600 in Chronic Obstructive Pulmonary Disease

Biology (Basel, Switzerland), 2022-11, Vol.11 (12), p.1707

2022

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A Comprehensive In Silico Study of New Metabolites from Heteroxenia fuscescens with SARS-CoV-2 Inhibitory Activity

Molecules (Basel, Switzerland), 2022-10, Vol.27 (21), p.7369

2022

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Evaluating knowledge, attitude, and physical activity levels related to cardiovascular disease in Egyptian adults with and without cardiovascular disease: a community-based cross-sectional study

BMC public health, 2024-04, Vol.24 (1), p.1107-1107, Article 1107

2024

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Synthesis and biological activity on IBD virus of diverse heterocyclic systems derived from 2-cyano-N'-((2-oxo-1,2-dihydroquinolin-3-yl)methylene)acetohydrazide

Synthetic communications, 2021-11, Vol.51 (22), p.3366-3378

2021

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Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature

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

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly

Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II

Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review

Unbalanced 14;X Translocation and Pattern of X Inactivation in a Female Patient with Multiple Congenital Anomalies

Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia

Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation

Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients

An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization

Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications

Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development

Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant

Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation

46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in the HSD17B3 Gene

Constitutional retinoblastoma gene deletion in Egyptian patients

Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant

Unbalanced 14;X Translocation and Pattern of X Inactivation in a Female Patient with Multiple Congenital Anomalies

Self-Standing Pd-Based Nanostructures for Electrocatalytic CO Oxidation: Do Nanocatalyst Shape and Electrolyte pH Matter?

Self-standing foam-like Pd-based alloys nanostructures for efficient electrocatalytic ethanol oxidation

Significant Interrelations among Serum Annexin A1, Soluble Receptor for Advanced Glycation End Products (sRAGE) and rs2070600 in Chronic Obstructive Pulmonary Disease

A Comprehensive In Silico Study of New Metabolites from Heteroxenia fuscescens with SARS-CoV-2 Inhibitory Activity

Evaluating knowledge, attitude, and physical activity levels related to cardiovascular disease in Egyptian adults with and without cardiovascular disease: a community-based cross-sectional study

Synthesis and biological activity on IBD virus of diverse heterocyclic systems derived from 2-cyano-N'-((2-oxo-1,2-dihydroquinolin-3-yl)methylene)acetohydrazide

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