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Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100645-100645, Article 100645

2020

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Inherited metabolic disorders in a cohort of Egyptian children

Egyptian liver journal (Cairo), 2022-03, Vol.12 (1)

2022

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The Use of Glycomacropeptide in Dietary Management of Phenylketonuria

Journal of Nutrition and Metabolism, 2016-01, Vol.2016, p.2453027-5

2016

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Glutaric aciduria type 1: neuroimaging features with clinical correlation

Pediatric radiology, 2015-10, Vol.45 (11), p.1696-1705

2015

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Prevalence of congenital heart defects among 54 Egyptian children with Maple syrup urine disease

The Egyptian journal of medical human genetics, 2018-01, Vol.19 (1), p.37-41

2018

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Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders

The Egyptian journal of medical human genetics, 2016-07, Vol.17 (3), p.247-250

2016

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Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants

Human molecular genetics, 2017-08, Vol.26 (16), p.3105-3115

2017

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Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I

Metabolic brain disease, 2017-10, Vol.32 (5), p.1417-1426

2017

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Demographic and clinical features of glutaric acidemia type 1; a high frequency among isolates in Upper Egypt

The Egyptian journal of medical human genetics, 2014-04, Vol.15 (2), p.187-192

2014

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l-Carnitine supplementation improves the behavioral symptoms in autistic children

Research in autism spectrum disorders, 2013-01, Vol.7 (1), p.159-166

2013

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Two patients with Canavan disease and structural modeling of a novel mutation

Metabolic brain disease, 2017-02, Vol.32 (1), p.171-177

2017

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Novel mutation in an Egyptian patient with infantile Canavan disease

Metabolic brain disease, 2016-06, Vol.31 (3), p.573-577

2016

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Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene

Metabolic brain disease, 2017-02, Vol.32 (1), p.35-40

2017

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Structural chromosomal abnormalities in couples with recurrent abortion in Egypt

Turkish journal of medical sciences, 2015, Vol.45 (1), p.208-213

2015

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Screening of diseases associated with abnormal metabolites for evaluation of HPLC in organic aciduria profiling

The Egyptian journal of medical human genetics, 2014-01, Vol.15 (1), p.69-78

2014

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CYP1B1 Gene Mutation Impact on Prognosis of Primary Congenital Glaucoma

QJM : An International Journal of Medicine, 2021-10, Vol.114 (Supplement_1)

2021

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Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants

Meta Gene, 2015-02, Vol.3, p.71-88

2015

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A Survey of 1,000 Cases Referred for Cytogenetic Study to King Khalid University Hospital, Saudi Arabia

Human heredity, 1999-01, Vol.49 (4), p.208-214

1999

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Screening

The Egyptian journal of medical human genetics, 2014-01, Vol.15 (1), p.69-78

2014

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Corrigendum to "Mutation Analysis of Methylmalonyl COA Mutase Gene Exon 2 In Egyptian Families: Identification of 25 Novel Allelic Variants" [Meta Gene 3C (2015) 71–88]

Meta Gene, 2017-02, Vol.11, p.136-136

2017

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Graphene-based double-loaded complementary split ring resonator (CSRR) slotted MIMO patch antenna for spectroscopy and imaging THz applications

Applied physics. A, Materials science & processing, 2022-08, Vol.128 (8), Article 656

2022

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Caching scheme for information‐centric networks with balanced content distribution

International journal of communication systems, 2022-05, Vol.35 (7), p.n/a

2022

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Graphene based highly sensitive refractive index sensor using double split ring resonator metasurface

Optical and quantum electronics, 2022-03, Vol.54 (3), Article 203

2022

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Depression detection based on social networking sites using data mining

Multimedia tools and applications, 2024-03, Vol.83 (9), p.25951-25967

2024

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Emergence and genetic analysis of variant pathogenic 4/91 (serotype 793/B) infectious bronchitis virus in Egypt during 2019

Virus genes, 2019-10, Vol.55 (5), p.720-725

2019

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Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia

Inherited metabolic disorders in a cohort of Egyptian children

The Use of Glycomacropeptide in Dietary Management of Phenylketonuria

Glutaric aciduria type 1: neuroimaging features with clinical correlation

Prevalence of congenital heart defects among 54 Egyptian children with Maple syrup urine disease

Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders

Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants

Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I

Demographic and clinical features of glutaric acidemia type 1; a high frequency among isolates in Upper Egypt

l-Carnitine supplementation improves the behavioral symptoms in autistic children

Two patients with Canavan disease and structural modeling of a novel mutation

Novel mutation in an Egyptian patient with infantile Canavan disease

Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene

Structural chromosomal abnormalities in couples with recurrent abortion in Egypt

Screening of diseases associated with abnormal metabolites for evaluation of HPLC in organic aciduria profiling

CYP1B1 Gene Mutation Impact on Prognosis of Primary Congenital Glaucoma

Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants

A Survey of 1,000 Cases Referred for Cytogenetic Study to King Khalid University Hospital, Saudi Arabia

Screening

Corrigendum to "Mutation Analysis of Methylmalonyl COA Mutase Gene Exon 2 In Egyptian Families: Identification of 25 Novel Allelic Variants" [Meta Gene 3C (2015) 71–88]

Graphene-based double-loaded complementary split ring resonator (CSRR) slotted MIMO patch antenna for spectroscopy and imaging THz applications

Caching scheme for information‐centric networks with balanced content distribution

Graphene based highly sensitive refractive index sensor using double split ring resonator metasurface

Depression detection based on social networking sites using data mining

Emergence and genetic analysis of variant pathogenic 4/91 (serotype 793/B) infectious bronchitis virus in Egypt during 2019

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