يعرض 1 - 5 نتائج من 5 نتيجة بحث عن '"Abd-Elkhalek, HS"', وقت الاستعلام: 0.82s تنقيح النتائج
  1. 1
    Case Report: Intrafamilial variability in Simpson–Golabi–Behmel syndrome with bilateral posterior ear lobule creases

    المؤلفون: Shawky, RM, Abd-Elkhalek, HS, Gad, S

    المصدر: Egyptian Journal of Medical Human Genetics; Vol 15, No 1 (2014); 87-90

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=78975075580c::5d980f05a647a3df1cdcfc11fde4c43b
    https://www.ajol.info/index.php/ejhg/article/view/100851

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  2. 2
    Case Report - Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and café au lait skin patches

    المؤلفون: Shawky, RM, Abd-Elkhalek, HS, Gad, S, Seifeldin, NS

    المصدر: Egyptian Journal of Medical Human Genetics; Vol 13, No 2 (2012); 227-231

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=78975075580c::802cc001917da6e6c1cf9e5c2bd15137
    https://www.ajol.info/index.php/ejhg/article/view/77702

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  3. 3
    Case Report: Trigonocephaly and Dandy walker variant in an Egyptian child – Probable mild Opitz trigonocephaly C syndrome

    المؤلفون: Shawky, RM, Abd-Elkhalek, HS

    المصدر: Egyptian Journal of Medical Human Genetics; Vol 13, No 1 (2012); 115-118

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=78975075580c::9b451cb2ba58bcf389eba8b07f9db875
    https://www.ajol.info/index.php/ejhg/article/view/77400

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  4. 4
    Peters’ plus syndrome in an Egyptian patient with some unusual features

    المؤلفون: Shawky, R, Abd-Elkhalek, HS

    المصدر: Egyptian Journal of Medical Human Genetics; Vol 11, No 1 (2010)

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=78975075580c::dcf1eb87f37ab9b83ba22b60eb10c6c8
    https://www.ajol.info/index.php/ejhg/article/view/55463

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  5. 5
    دورية أكاديمية
    Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.

    المؤلفون: Magdy RM; Metabolic and Genetics Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt. Electronic address: rofidamohamed@med.sohag.edu.eg., Abd-Elkhalek HS; Medical Genetics Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Bakheet MA; Pediatric Cardiology Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt., Mohamed MM; Pediatric Neurology Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt.

    المصدر: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie [Arch Pediatr] 2022 Jan; Vol. 29 (1), pp. 36-43. Date of Electronic Publication: 2021 Nov 27.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: Elsevier Country of Publication: France NLM ID: 9421356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1769-664X (Electronic) Linking ISSN: 0929693X NLM ISO Abbreviation: Arch Pediatr Subsets: MEDLINE

    مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors/*diagnosis , Metabolism, Inborn Errors/*diagnosis , Neonatal Screening/*methods, Acyl-CoA Dehydrogenase ; Brain Diseases, Metabolic ; Child ; Egypt/epidemiology ; Female ; Glutaryl-CoA Dehydrogenase/deficiency ; Hospitals ; Humans ; Infant, Newborn ; Male ; Metabolism, Inborn Errors/epidemiology ; Propionic Acidemia ; Prospective Studies ; Tandem Mass Spectrometry

    SCR Disease Name: Glutaric Acidemia I

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