المؤلفون: Shoukry, I, Girgis, MY, Abdel Ghaffar, HM

المصدر: European Journal of Paediatric Neurology; Sep2013 Supplement, Vol. 17, pS77-S77, 1p

المؤلفون: Girgis MY; Department of Pediatrics, Neurometabolic Unit, Faculty of Medicine, Cairo University, Cairo, Egypt., Mahfouz E; Department of Pediatrics, Neurometabolic Unit, Faculty of Medicine, Cairo University, Cairo, Egypt., Abdellatif A; Department of Pediatrics, Neurometabolic Unit, Faculty of Medicine, Cairo University, Cairo, Egypt., Taha F; Department of Pediatrics, Neurometabolic Unit, Faculty of Medicine, Cairo University, Cairo, Egypt., ElNaggar W; Department of Pediatrics, Neurometabolic Unit, Faculty of Medicine, Cairo University, Cairo, Egypt.

المصدر: Journal of epilepsy research [J Epilepsy Res] 2024 Jun 30; Vol. 14 (1), pp. 29-36. Date of Electronic Publication: 2024 Jun 30 (Print Publication: 2024).

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Korean Epilepsy Society Country of Publication: Korea (South) NLM ID: 101577886 Publication Model: eCollection Cited Medium: Print ISSN: 2233-6249 (Print) Linking ISSN: 22336249 NLM ISO Abbreviation: J Epilepsy Res Subsets: PubMed not MEDLINE

المؤلفون: Girgis MY; Temple University Hospital, Philadelphia, Pennsylvania., Qazi S; Center for Biostatistics & Epidemiology, Department of Biomedical Education and Data Science, Lewis Katz School of Medicine at Temple University, Philadelphia, Pennsylvania., Patel A; Center for Biostatistics & Epidemiology, Department of Biomedical Education and Data Science, Lewis Katz School of Medicine at Temple University, Philadelphia, Pennsylvania. Electronic address: akulspatel@gmail.com., Yu D; Center for Biostatistics & Epidemiology, Department of Biomedical Education and Data Science, Lewis Katz School of Medicine at Temple University, Philadelphia, Pennsylvania., Lu X; Center for Biostatistics & Epidemiology, Department of Biomedical Education and Data Science, Lewis Katz School of Medicine at Temple University, Philadelphia, Pennsylvania., Sewards J; Temple University Hospital, Philadelphia, Pennsylvania.

المصدر: Journal of surgical education [J Surg Educ] 2023 Jan; Vol. 80 (1), pp. 127-134. Date of Electronic Publication: 2022 Sep 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101303204 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-7452 (Electronic) Linking ISSN: 18787452 NLM ISO Abbreviation: J Surg Educ Subsets: MEDLINE

مواضيع طبية MeSH: Internship and Residency* , Racism*, Humans ; Male ; Female ; Retrospective Studies ; Sexism ; Personnel Selection ; Philadelphia

المؤلفون: Girgis MY; Department of Orthopaedic Surgery, Temple University Hospital, Philadelphia, PA, USA., Judy R; Department of Orthopaedic Surgery, Temple University Hospital, Philadelphia, PA, USA., Gokcen EC; Department of Orthopaedic Surgery, Temple University Hospital, Philadelphia, PA, USA.

المصدر: Foot & ankle orthopaedics [Foot Ankle Orthop] 2022 Sep 27; Vol. 7 (3), pp. 24730114221126998. Date of Electronic Publication: 2022 Sep 27 (Print Publication: 2022).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Sage Publications Country of Publication: United States NLM ID: 101752333 Publication Model: eCollection Cited Medium: Internet ISSN: 2473-0114 (Electronic) Linking ISSN: 24730114 NLM ISO Abbreviation: Foot Ankle Orthop Subsets: PubMed not MEDLINE

المؤلفون: Medico Salsench E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Deng R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Pérez B; Centro de Diagnóstico de Enfermedades Moleculares. Centro de Biología Molecular, Universidad Autonoma de Madrid, CIBER Enfermedades Raras, IdiPAZ, Madrid, Spain., Sánchez-Lijarcio O; Centro de Diagnóstico de Enfermedades Moleculares. Centro de Biología Molecular, Universidad Autonoma de Madrid, CIBER Enfermedades Raras, IdiPAZ, Madrid, Spain., Ibáñez-Mico S; Pediatric Neurology Unit, Arrixaca Universitary Hospital, Murcia, Spain., Wojcik A; Gillette Children's Specialty Healthcare, St. Paul, MN 55101, USA., Vargas M; Gillette Children's Specialty Healthcare, St. Paul, MN 55101, USA., Abbas Al-Sannaa N; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia., Girgis MY; Pediatric Department, Children's Hospital, Cairo University, Cairo, Egypt., Silveira TRD; CENTOGENE, GmbH, 18055 Rostock, Germany., Bauer P; CENTOGENE, GmbH, 18055 Rostock, Germany., Schroeder A; Division of Medical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA., Fong CT; Departments of Pediatrics and of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA., Begtrup A; GeneDx, Gaithersburg, MD 20877, USA., Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran., Toosi MB; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Imannezhad S; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Ahangari N; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Najarzadeh Torbati P; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Ghayoor Karimiani E; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, UK., Cali E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Kaya IH; College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia., AlMuhaizea M; College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Kingdom of Saudi Arabia., Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Kingdom of Saudi Arabia., Cardona-Londoño KJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia., Arold ST; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia.; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, 34090 Montpellier, France., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Bertoli-Avella A; CENTOGENE, GmbH, 18055 Rostock, Germany., Kaya N; Department of Translational Genomics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Kingdom of Saudi Arabia., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

المصدر: Brain : a journal of neurology [Brain] 2021 Nov 29; Vol. 144 (10), pp. e85.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Comment

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Brain Diseases*, Humans ; Mutation/genetics ; Phenotype

المؤلفون: Abdelmesih SK; Department of Pediatrics, Children and Women Specialized Hospital, Galaa Military Medical Complex, Cairo, Egypt. Electronic address: sherry_ped@hotmail.com., Elkhateeb N; Department of Pediatrics (Pediatric Neurology Unit), Cairo University Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt. Electronic address: dr-nour-khateb@cu.edu.eg., Zakaria M; Department of Pediatrics (Pediatric Neurology Unit), Cairo University Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt. Electronic address: drmostafazakaria@hotmail.com., Girgis MY; Department of Pediatrics (Pediatric Neurology Unit), Cairo University Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt. Electronic address: marian.girgis@kasralainy.edu.eg.

المصدر: Seizure [Seizure] 2021 Oct; Vol. 91, pp. 263-270. Date of Electronic Publication: 2021 Jul 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688 (Electronic) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy, Generalized*/drug therapy , Epilepsy, Tonic-Clonic*, Anticonvulsants/therapeutic use ; Child ; Humans ; Infant ; Levetiracetam/therapeutic use ; Retrospective Studies ; Seizures/drug therapy ; Valproic Acid/therapeutic use

SCR Disease Name: Epilepsy, Idiopathic Generalized

المؤلفون: Mahmoud IG; Pediatric Neurology Department, Cairo University, Cairo, Egypt., Elmonem MA; Clinical and Chemical Pathology Department, Cairo University, Cairo, Egypt., Elkhateeb NM; Pediatric Neurology Department, Cairo University, Cairo, Egypt., Elnaggar W; Pediatric Neurology Department, Cairo University, Cairo, Egypt., Sobhi A; Pediatric Neurology Department, Cairo University, Cairo, Egypt., Girgis MY; Pediatric Neurology Department, Cairo University, Cairo, Egypt., Kamel M; Pediatric Neurology Department, Cairo University, Cairo, Egypt., Shaheen Y; Pediatric Neurology Department, Cairo University, Cairo, Egypt., Samaha M; Pediatric Neurology Department, Cairo University, Cairo, Egypt., Ramadan A; Pediatric Neurology Department, Cairo University, Cairo, Egypt., Zaki MS; Clinical Genetics Department, National Research Centre, Cairo, Egypt., El-Hawary B; Pediatrics Department, Aswan University, Aswan, Egypt., Hassan SA; Pediatric Neurology Department, Cairo University, Cairo, Egypt., Khalifa IA; Pediatric Neurology Department, Cairo University, Cairo, Egypt., Mossad F; Pediatric Neurology Department, Cairo University, Cairo, Egypt., Al-Menabawy NM; Pediatric Neurology Department, Cairo University, Cairo, Egypt., Zielke S; Albrecht-Kossel-Institute for Neurodegeneration, Rostock University Medical Centre, Rostock, Germany.; Centogene AG, Rostock, Germany., Gleeson JG; Neuroscience Department, Howard Hughes Medical Institute, University of California, San Diego, California., Rolfs A; Albrecht-Kossel-Institute for Neurodegeneration, Rostock University Medical Centre, Rostock, Germany.; Centogene AG, Rostock, Germany., Selim LA; Pediatric Neurology Department, Cairo University, Cairo, Egypt.

المصدر: Clinical genetics [Clin Genet] 2019 Apr; Vol. 95 (4), pp. 537-539. Date of Electronic Publication: 2019 Jan 11.

نوع المنشور: Letter; Review

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Biomarkers* , Mutation* , Phenotype*, Intracellular Signaling Peptides and Proteins/*genetics , Niemann-Pick Disease, Type C/*diagnosis , Niemann-Pick Disease, Type C/*genetics, Egypt ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Humans ; Niemann-Pick C1 Protein ; Exome Sequencing

المؤلفون: Hassan FA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt., El-Mougy F; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt., Sharaf SA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt., Mandour I; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt., Morgan MF; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt., Selim LA; Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Hassan SA; Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Salem F; Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Oraby A; Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Girgis MY; Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Mahmoud IG; Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt., El-Badawy A; Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt., El-Nekhely I; Ministry of Health & Population, Cairo, Egypt., Moharam N; Ministry of Health & Population, Cairo, Egypt., Mehaney DA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt., Elmonem MA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt mohamed.abdelmonem@kasralainy.edu.eg.

المصدر: Journal of medical screening [J Med Screen] 2016 Sep; Vol. 23 (3), pp. 124-9. Date of Electronic Publication: 2016 Jan 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Sage Country of Publication: England NLM ID: 9433359 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1475-5793 (Electronic) Linking ISSN: 09691413 NLM ISO Abbreviation: J Med Screen Subsets: MEDLINE

مواضيع طبية MeSH: Outcome Assessment, Health Care*, Metabolism, Inborn Errors/*epidemiology , Neonatal Screening/*methods, Egypt/epidemiology ; Female ; Humans ; Infant, Newborn ; Male ; Metabolism, Inborn Errors/diagnosis ; Pilot Projects ; Prevalence ; Tandem Mass Spectrometry

المؤلفون: Elmonem MA; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt. mohamed.abdelmonem@kasralainy.edu.eg.; Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt. mohamed.abdelmonem@kasralainy.edu.eg.; Clinical and Chemical Pathology Department, Inherited Metabolic Disease Laboratory, Faculty of Medicine, Cairo University, 2 Ali Pasha Ibrahim Street, Center of Social and Preventive Medicine, Room 409, Monira, Cairo, 11628, Egypt. mohamed.abdelmonem@kasralainy.edu.eg., Mahmoud IG; Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.; Department of Pediatric Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt., Mehaney DA; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.; Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt., Sharaf SA; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.; Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt., Hassan SA; Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.; Department of Pediatric Genetics, Faculty of Medicine, Cairo University, Cairo, Egypt., Orabi A; Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.; Department of Pediatric Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt., Salem F; Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.; Department of Pediatric Genetics, Faculty of Medicine, Cairo University, Cairo, Egypt., Girgis MY; Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.; Department of Pediatric Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt., El-Badawy A; Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.; Department of Pediatric Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt., Abdelwahab M; Department of Pediatric Hematology, Faculty of Medicine, Cairo University, Cairo, Egypt., Salah Z; Department of Pediatric Cardiology, Faculty of Medicine, Cairo University, Cairo, Egypt., Soliman NA; Center for Pediatric Nephrology and Transplantation (CPNT), Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.; Egyptian Group of Orphan Renal Diseases (EGORD), Cairo, Egypt., Hassan FA; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.; Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt., Selim LA; Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.; Department of Pediatric Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt.

المصدر: Indian journal of pediatrics [Indian J Pediatr] 2016 Aug; Vol. 83 (8), pp. 805-13. Date of Electronic Publication: 2016 Feb 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Dr. K. C. Chaudhuri Foundation, co-published by Springer India Country of Publication: India NLM ID: 0417442 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0973-7693 (Electronic) Linking ISSN: 00195456 NLM ISO Abbreviation: Indian J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Lysosomal Storage Diseases*/epidemiology , Lysosomal Storage Diseases*/genetics, Child ; Child, Preschool ; Cohort Studies ; Consanguinity ; Egypt/epidemiology ; Female ; Humans ; Male ; Prevalence

المؤلفون: Mansour LA; Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt., Girgis MY; Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt., Abdulhay M; Egypt Children Hospital, Cairo, Egypt., ElEinein EI; Department of Rheumatology and Rehabilitation, Faculty of Medicine, Cairo University, Cairo, Egypt., ElHawary R; Department of Clinical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt., Hanna MO; Department of Clinical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.

المصدر: Neuropediatrics [Neuropediatrics] 2016 Jun; Vol. 47 (3), pp. 151-6. Date of Electronic Publication: 2016 Apr 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Hippokrates Verlag Country of Publication: Germany NLM ID: 8101187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-1899 (Electronic) Linking ISSN: 0174304X NLM ISO Abbreviation: Neuropediatrics Subsets: MEDLINE

مواضيع طبية MeSH: Guillain-Barre Syndrome/*genetics , Receptors, IgG/*genetics, Alleles ; Case-Control Studies ; Child ; Child, Preschool ; Female ; GPI-Linked Proteins/genetics ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Infant ; Male ; Polymerase Chain Reaction ; Polymorphism, Genetic