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PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

Human genetics, 2019-03, Vol.138 (3), p.231-239

2019

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OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype

Journal of human genetics, 2022-01, Vol.67 (1), p.55-64

2022

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A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia

Journal of human genetics, 2022-11, Vol.67 (11), p.669-673

2022

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Gene Mutations of the Three Ectodysplasin Pathway Key Players ( EDA , EDAR , and EDARADD ) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations

Genes, 2021-09, Vol.12 (9), p.1389

2021

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A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management

American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.39-45

2024

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CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum

American journal of medical genetics. Part A, 2023-08, Vol.191 (8), p.2100-2112

2023

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Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait

American journal of medical genetics. Part A, 2022-02, Vol.188 (2), p.648-657

2022

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KBG syndrome in two patients from Egypt

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1309-1312

2020

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Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies

Molecular syndromology, 2022-12, Vol.13 (5), p.389-396

2022

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Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features

Cytogenetic and genome research, 2019-01, Vol.159 (3), p.130-136

2019

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Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1407-1420

2020

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Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity

Genes, 2022-06, Vol.13 (6), p.1056

2022

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Phenotypic and molecular insights into PQBP1‐related intellectual disability

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2446-2450

2018

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Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait

American journal of medical genetics. Part A, 2022, Vol.188 (2), p.648-657

2022

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Diagnosis of coronavirus disease 2019 and the potential role of deep learning: insights from the experience of Cairo University Hospitals

Journal of international medical research, 2022-07, Vol.50 (7), p.3000605221109392-3000605221109392

2022

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Accuracy of the Traditional COVID-19 Phone Triaging System and Phone Triage-Driven Deep Learning Model

Journal of primary care & community health, 2022-07, Vol.13, p.21501319221113544-21501319221113544

2022

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An Adapted Online Family Medicine Training for House Officers Amid Covid-19 Pandemic in Egypt

Journal of primary care & community health, 2021, Vol.12, p.21501327211017007-21501327211017007

2021

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GC-MS analysis and the effect of topical application of essential oils of Pinus canariensis C.Sm., Cupressus lusitanica Mill. and Cupressus arizonica Greene aerial parts in Imiquimod–Induced Psoriasis in Mice

Journal of ethnopharmacology, 2024-01, Vol.318 (Pt B), p.116947-116947, Article 116947

2024

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Development of Semisynthetic Apoptosis-Inducing Agents Based on Natural Phenolic Acids Scaffold: Design, Synthesis and In-Vitro Biological Evaluation

Molecules (Basel, Switzerland), 2022-10, Vol.27 (19), p.6724

2022

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Toxoplasmosis and abortion : pro-and anti-inflammatory cytokines gene expression of the host immune cells

Egyptian Journal of Medical Human Genetics, 2019-08, Vol.20 (1), p.1-10, Article 3

2019

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Effect of DASH Diet Versus Healthy Dietary Advice on the Estimated Atherosclerotic Cardiovascular Disease Risk

Journal of primary care & community health, 2021, Vol.12, p.2150132720980952-2150132720980952

2021

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Epigenetic alterations of miR-155 and global DNA methylation as potential mediators of ochratoxin A cytotoxicity and carcinogenicity in human lung fibroblasts

Environmental science and pollution research international, 2024-01, Vol.31 (4), p.5473-5483

2024

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Exploiting Signal Joint T Cell Receptor Excision Circle to Investigate the Impact of COVID-19 and Autoimmune Diseases on Age Prediction and Immunosenescence

Biomedicines, 2022-12, Vol.10 (12), p.3193

2022

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Expansion of the phenotypic and mutational spectrum of Carpenter syndrome

European journal of medical genetics, 2022-01, Vol.65 (1), p.104377-104377, Article 104377

2022

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Borescope assisted intubation through Fekry intubating airway; a prospective observational study

Anaesthesia, pain & intensive care, 2022-12, Vol.26 (6), p.802-806

2022

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PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype

A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia

Gene Mutations of the Three Ectodysplasin Pathway Key Players ( EDA , EDAR , and EDARADD ) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations

A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management

CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum

Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait

KBG syndrome in two patients from Egypt

Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies

Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity

Phenotypic and molecular insights into PQBP1‐related intellectual disability

Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait

Diagnosis of coronavirus disease 2019 and the potential role of deep learning: insights from the experience of Cairo University Hospitals

Accuracy of the Traditional COVID-19 Phone Triaging System and Phone Triage-Driven Deep Learning Model

An Adapted Online Family Medicine Training for House Officers Amid Covid-19 Pandemic in Egypt

GC-MS analysis and the effect of topical application of essential oils of Pinus canariensis C.Sm., Cupressus lusitanica Mill. and Cupressus arizonica Greene aerial parts in Imiquimod–Induced Psoriasis in Mice

Development of Semisynthetic Apoptosis-Inducing Agents Based on Natural Phenolic Acids Scaffold: Design, Synthesis and In-Vitro Biological Evaluation

Toxoplasmosis and abortion : pro-and anti-inflammatory cytokines gene expression of the host immune cells

Effect of DASH Diet Versus Healthy Dietary Advice on the Estimated Atherosclerotic Cardiovascular Disease Risk

Epigenetic alterations of miR-155 and global DNA methylation as potential mediators of ochratoxin A cytotoxicity and carcinogenicity in human lung fibroblasts

Exploiting Signal Joint T Cell Receptor Excision Circle to Investigate the Impact of COVID-19 and Autoimmune Diseases on Age Prediction and Immunosenescence

Expansion of the phenotypic and mutational spectrum of Carpenter syndrome

Borescope assisted intubation through Fekry intubating airway; a prospective observational study

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