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Extracellular miR-145, miR-223 and miR-326 expression signature allow for differential diagnosis of immune-mediated neuroinflammatory diseases

Journal of the neurological sciences, 2017-12, Vol.383, p.188-198

2017

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Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS

Clinical genetics, 2023-08, Vol.104 (2), p.238-244

2023

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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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Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy

Journal of molecular neuroscience, 2024-10, Vol.74 (4), p.93

2024

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MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients

Egyptian Journal of Medical Human Genetics, 2022-12, Vol.23 (1), Article 156

2022

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Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

Gene, 2017-02, Vol.600, p.48-54

2017

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Molecular study of Pompe disease in Egyptian infants

Egyptian Journal of Medical Human Genetics, 2021-11, Vol.22 (1), p.87, Article 87

2021

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Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene

Journal of Genetic Engineering and Biotechnology, 2021-08, Vol.19 (1), p.111, Article 111

2021

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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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Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis

Sexual development, 2016-01, Vol.10 (3), p.147-151

2016

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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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Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease

BMC ophthalmology, 2022-05, Vol.22 (1), p.217-217, Article 217

2022

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Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs)

Gene, 2012-11, Vol.509 (1), p.120-123

2012

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Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency

Sexual development, 2016-01, Vol.10 (2), p.66-73

2016

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Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome

Journal of the Formosan Medical Association, 2013-11, Vol.112 (11), p.707-712

2013

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SMA carrier testing using Real-time PCR as a potential preconception screening tool

Egyptian Journal of Medical Human Genetics, 2022-02, Vol.23 (1), p.24, Article 24

2022

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Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients

Egyptian Journal of Medical Human Genetics, 2020-01, Vol.21 (1), p.4, Article 4

2020

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Genetic diagnosis of Prader–Willi syndrome

Middle East Journal of Medical Genetics, 2016-07, Vol.5 (2), p.45-53

2016

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Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1666-1677

2021

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Mutation analysis of the GJB2 and GJB6 genes in Egyptian patients with autosomal recessive sensorineural nonsyndromic hearing loss

Middle East Journal of Medical Genetics, 2014-01, Vol.3 (1), p.11-15

2014

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Potential Value of miR-23a for Discriminating Neuromyelitis Optica Spectrum Disorder from Multiple Sclerosis

Archives of Iranian medicine, 2020-10, Vol.23 (10), p.678-687

2020

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Circulating miRNAs 21 and 221 as biomarkers for early diagnosis of prostate cancer

Tumor biology, 2014-12, Vol.35 (12), p.12613-12617

2014

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Egyptian female with 8q22.2q22.3 microdeletion syndrome

Human gene (Amsterdam, Netherlands), 2022-09, Vol.33, p.201028, Article 201028

2022

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Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants

Middle East Journal of Medical Genetics, 2022-01, Vol.11 (1), p.1-11

2022

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Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt

Journal of Pediatric Endocrinology and Metabolism, 2020-07, Vol.33 (7), p.893-900

2020

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Extracellular miR-145, miR-223 and miR-326 expression signature allow for differential diagnosis of immune-mediated neuroinflammatory diseases

Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS

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

Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy

MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients

Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

Molecular study of Pompe disease in Egyptian infants

Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene

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

Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis

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

Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease

Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs)

Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome

SMA carrier testing using Real-time PCR as a potential preconception screening tool

Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients

Genetic diagnosis of Prader–Willi syndrome

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development

Mutation analysis of the GJB2 and GJB6 genes in Egyptian patients with autosomal recessive sensorineural nonsyndromic hearing loss

Potential Value of miR-23a for Discriminating Neuromyelitis Optica Spectrum Disorder from Multiple Sclerosis

Circulating miRNAs 21 and 221 as biomarkers for early diagnosis of prostate cancer

Egyptian female with 8q22.2q22.3 microdeletion syndrome

Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants

Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt

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