Hasil Pencarian - Ayman W. El-Hattab

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  1. 1
    WIPI proteins: Biological functions and related syndromes

    WIPI proteins: Biological functions and related syndromes oleh Mohammed Almannai, Dana Marafi, Ayman W. El-Hattab, Ayman W. El-Hattab, Ayman W. El-Hattab

    Diterbitkan 2022-09-01
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  2. 2
    Nitric Oxide Deficiency in Mitochondrial Disorders: The Utility of Arginine and Citrulline

    Nitric Oxide Deficiency in Mitochondrial Disorders: The Utility of Arginine and Citrulline oleh Mohammed Almannai, Mohammed Almannai, Ayman W. El-Hattab, Ayman W. El-Hattab

    Diterbitkan 2021-08-01
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  3. 3
    Mitochondrial cardiomyopathies

    Mitochondrial cardiomyopathies oleh Ayman W. El-Hattab, Fernando Scaglia

    Diterbitkan 2016-07-01
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  4. 4
    Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans

    Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans oleh Mariam S. Al Harbi, Ayman W. El-Hattab

    Diterbitkan 2017-01-01
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  5. 5
    Cerebral folate deficiency: A report of two affected siblings

    Cerebral folate deficiency: A report of two affected siblings oleh Rabah Almahmoud, Mohammed Mekki, Ayman W. El-Hattab

    Diterbitkan 2023-06-01
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  6. 6
    N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra

    N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra oleh Eiman H. Al Kaabi, Ayman W. El-Hattab

    Diterbitkan 2016-09-01
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  7. 7
    Mitochondrial Membranes and Mitochondrial Genome: Interactions and Clinical Syndromes

    Mitochondrial Membranes and Mitochondrial Genome: Interactions and Clinical Syndromes oleh Mohammed Almannai, Azza Salah, Ayman W. El-Hattab

    Diterbitkan 2022-06-01
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  8. 8
    Carnitine Inborn Errors of Metabolism

    Carnitine Inborn Errors of Metabolism oleh Mohammed Almannai, Majid Alfadhel, Ayman W. El-Hattab

    Diterbitkan 2019-09-01
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  9. 9
    Mitochondrial Fission and Fusion: Molecular Mechanisms, Biological Functions, and Related Disorders

    Mitochondrial Fission and Fusion: Molecular Mechanisms, Biological Functions, and Related Disorders oleh Mode Al Ojaimi, Azza Salah, Ayman W. El-Hattab

    Diterbitkan 2022-09-01
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  10. 10
    Metabolic Seizures

    Metabolic Seizures oleh Mohammed Almannai, Rabah A. Al Mahmoud, Rabah A. Al Mahmoud, Mohammed Mekki, Mohammed Mekki, Ayman W. El-Hattab, Ayman W. El-Hattab

    Diterbitkan 2021-07-01
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  11. 11
    De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report

    De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report oleh Muna A. Al Dhaibani, Diane Allingham-Hawkins, Ayman W. El-Hattab

    Diterbitkan 2017-10-01
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  12. 12
    Arginine and Citrulline for the Treatment of MELAS Syndrome

    Arginine and Citrulline for the Treatment of MELAS Syndrome oleh Ayman W. El-Hattab MD, FACMG, Mohammed Almannai MD, Fernando Scaglia MD, FACMG

    Diterbitkan 2017-03-01
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  13. 13
    17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report

    17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a cas... oleh Karen Wessel, Jehan Suleiman, Tamam E. Khalaf, Shivendra Kishore, Arndt Rolfs, Ayman W. El-Hattab

    Diterbitkan 2017-10-01
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  14. 14
    Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

    Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians oleh Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley, Joseph Gleeson

    Diterbitkan 2020-07-01
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  15. 15
    Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases

    Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases oleh Fatma Al Jasmi, Nuha Al Zaabi, Khalid Al-Thihli, Amal M Al Teneiji, Jozef Hertecant, Ayman W El-Hattab

    Diterbitkan 2020-02-01
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  16. 16
    FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review

    FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review oleh Rami A. Ballout, Chadi Al Alam, Penelope E. Bonnen, Martina Huemer, Martina Huemer, Ayman W. El-Hattab, Rolla Shbarou

    Diterbitkan 2019-02-01
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  17. 17
    Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.

    Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. oleh Bekim Sadikovic, Jing Wang, Ayman W El-Hattab, Megan Landsverk, Ganka Douglas, Ellen K Brundage, William J Craigen, Eric S Schmitt, Lee-Jun C Wong

    Diterbitkan 2010-12-01
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  18. 18
    Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes.

    Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes. oleh Bekim Sadikovic, Jing Wang, Ayman W El-Hattab, Megan Landsverk, Ganka Douglas, Ellen K Brundage, William J Craigen, Eric S Schmitt, Lee-Jun C Wong

    Diterbitkan 2017-01-01
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  19. 19
    Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes

    Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes oleh Michael J. Xie, Gareth A. Cromie, Katherine Owens, Martin S. Timour, Michelle Tang, J. Nathan Kutz, Ayman W. El-Hattab, Richard N. McLaughlin, Aimée M. Dudley

    Diterbitkan 2023-10-01
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  20. 20
    Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.

    Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes. oleh Michael J Xie, Gareth A Cromie, Katherine Owens, Martin S Timour, Michelle Tang, J Nathan Kutz, Ayman W El-Hattab, Richard N McLaughlin, Aimée M Dudley

    Diterbitkan 2023-10-01
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