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Exome sequencing can improve diagnosis and alter patient management

Science translational medicine, 2012-06, Vol.4 (138), p.138ra78

2012

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Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum

Journal of molecular neuroscience, 2021-05, Vol.71 (5), p.1112-1130

2021

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Polymorphisms of Immunoglobulin G Fc Receptors in Pediatric Guillain-Barré Syndrome

Neuropediatrics, 2016-06, Vol.47 (3), p.151

2016

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Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt

Journal of advanced research, 2018-07, Vol.12, p.39-45

2018

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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Science (American Association for the Advancement of Science), 2014-01, Vol.343 (6170), p.506-511

2014

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Adapting Evidence-Based Practice Guidelines for Emergency Management of Seizures in Children Beyond the Neonatal Period

Pediatric neurology, 2024-08, Vol.157, p.14-18

2024

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Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Nature genetics, 2018-08, Vol.50 (8), p.1093-1101

2018

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Screening for galactosemia: is there a place for it?

International journal of general medicine, 2019-05, Vol.12, p.193-205

2019

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ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype

Clinical genetics, 2020-12, Vol.98 (6), p.598-605

2020

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Short-term Effects of Corticosteroid Therapy on Cardiac and Skeletal Muscles in Muscular Dystrophies

Journal of investigative medicine, 2014-08, Vol.62 (6), p.875-879

2014

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Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration

Nature genetics, 2018-07, Vol.50 (8), p.1093-1101

2018

Volltextzugriff (PDF)

MEGALENCEPHALY AND WHITE MATTER DISEASES IN INFANCY AND CHILDHOOD

Frontiers in human neuroscience, 2013, Vol.7

2013

Volltextzugriff (PDF)

Genotype–phenotype relationship among Egyptian children with Rett syndrome

Journal of the Egyptian Public Health Association, 2015-09, Vol.90 (3), p.133-137

2015

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Does granulocyte-colony stimulating factor administration induce damage or repair response in schistosomiasis?

World journal of hepatology, 2010-12, Vol.2 (12), p.434-441

2010

Volltextzugriff (PDF)

Internet of Things: A Comprehensive Overview on Protocols, Architectures, Technologies, Simulation Tools, and Future Directions

Energies (Basel), 2023-04, Vol.16 (8), p.3465

2023

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Liver Macrophage Depletion Ameliorates The Effect of Mesenchymal Stem Cell Transplantation in a Murine Model of Injured Liver

Scientific reports, 2019-01, Vol.9 (1), p.35-35, Article 35

2019

Volltextzugriff (PDF)

Swift Removal of the Heavy Metals Cadmium and Lead from an Aqueous Solution by a CAN-Zeolite Synthesized from Natural Clay

ChemEngineering, 2023-12, Vol.7 (6), p.113

2023

Volltextzugriff (PDF)

HCV and HEV: two players in an Egyptian village, a study of prevalence, incidence, and co-infection

Environmental science and pollution research international, 2020-09, Vol.27 (27), p.33659-33667

2020

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Evaluation of aromatase inhibitor on radiation induced pulmonary fibrosis via TGF- β/Smad 3 and TGF- β/PDGF pathways in rats

Toxicology mechanisms and methods, 2021-09, Vol.31 (7), p.538-545

2021

Volltextzugriff (PDF)

Exploring factors influencing patient activation in Saudi rheumatoid arthritis patients: A Nationwide Cross‐Sectional Survey—Results from the COPARA study

Immunity, Inflammation and Disease, 2023-11, Vol.11 (11), p.e1101-n/a

2023

Volltextzugriff (PDF)

Comparison of medical documentation between pharmacist-led anticoagulation clinics and physician-led anticoagulation clinics: A retrospective study

Saudi pharmaceutical journal, 2023-11, Vol.31 (11), p.101795-101795, Article 101795

2023

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Resiliency process and socialization among Palestinian children exposed to traumatic experience: Grounded theory approach

Journal of child and adolescent psychiatric nursing, 2021-05, Vol.34 (2), p.88-95

2021

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Tracking the formation potential of vivianite within the treatment train of full-scale wastewater treatment plants

The Science of the total environment, 2024-02, Vol.912, p.169520-169520, Article 169520

2024

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Psychiatric comorbidity in a sample of Egyptian women with vaginismus

Middle East current psychiatry (Cairo), 2022-05, Vol.29 (1), p.1-8, Article 39

2022

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Exome sequencing can improve diagnosis and alter patient management

Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum

Polymorphisms of Immunoglobulin G Fc Receptors in Pediatric Guillain-Barré Syndrome

Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Adapting Evidence-Based Practice Guidelines for Emergency Management of Seizures in Children Beyond the Neonatal Period

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Screening for galactosemia: is there a place for it?

ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts

Short-term Effects of Corticosteroid Therapy on Cardiac and Skeletal Muscles in Muscular Dystrophies

Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration

MEGALENCEPHALY AND WHITE MATTER DISEASES IN INFANCY AND CHILDHOOD

Genotype–phenotype relationship among Egyptian children with Rett syndrome

Does granulocyte-colony stimulating factor administration induce damage or repair response in schistosomiasis?

Internet of Things: A Comprehensive Overview on Protocols, Architectures, Technologies, Simulation Tools, and Future Directions

Liver Macrophage Depletion Ameliorates The Effect of Mesenchymal Stem Cell Transplantation in a Murine Model of Injured Liver

Swift Removal of the Heavy Metals Cadmium and Lead from an Aqueous Solution by a CAN-Zeolite Synthesized from Natural Clay

HCV and HEV: two players in an Egyptian village, a study of prevalence, incidence, and co-infection

Evaluation of aromatase inhibitor on radiation induced pulmonary fibrosis via TGF- β/Smad 3 and TGF- β/PDGF pathways in rats

Exploring factors influencing patient activation in Saudi rheumatoid arthritis patients: A Nationwide Cross‐Sectional Survey—Results from the COPARA study

Comparison of medical documentation between pharmacist-led anticoagulation clinics and physician-led anticoagulation clinics: A retrospective study

Resiliency process and socialization among Palestinian children exposed to traumatic experience: Grounded theory approach

Tracking the formation potential of vivianite within the treatment train of full-scale wastewater treatment plants

Psychiatric comorbidity in a sample of Egyptian women with vaginismus

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