المؤلفون: Shawky, RM, Zaki, EA, Fateen, EM, Refaat, MM, Eldin, NM

المصدر: Egyptian Journal of Medical Human Genetics; Vol 9, No 1 (2008); 11-22

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=78975075580c::0da3264ac1558b4835431366bb404f70
https://www.ajol.info/index.php/ejhg/article/view/42624

المؤلفون: Nosier SS; Biochemical Genetics Department, Human Genetic and Genome Research Institute, National Research Centre, Cairo, Egypt. dr.sohanosier@yahoo.com., El Nakeeb SMS; Medical Biochemistry Department, Faculty of Medicine (for Girls), Al-Azhar University, Cairo, Egypt., Ibrahim MM; Biochemical Genetics Department, Human Genetic and Genome Research Institute, National Research Centre, Cairo, Egypt., El-Gammal M; Clinical Genetics Department, Human Genetic and Genome Research Institute, National Research Centre, Cairo, Egypt., Fateen EM; Biochemical Genetics Department, Human Genetic and Genome Research Institute, National Research Centre, Cairo, Egypt.

المصدر: Journal, genetic engineering & biotechnology [J Genet Eng Biotechnol] 2023 Nov 10; Vol. 21 (1), pp. 112. Date of Electronic Publication: 2023 Nov 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101317150 Publication Model: Electronic Cited Medium: Internet ISSN: 2090-5920 (Electronic) Linking ISSN: 1687157X NLM ISO Abbreviation: J Genet Eng Biotechnol Subsets: PubMed not MEDLINE

المؤلفون: Essawi ML; Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, Dokki, Cairo, 12311, Egypt.; National Research Centre, Cairo, Egypt., Fateen EM; Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, Dokki, Cairo, 12311, Egypt.; National Research Centre, Cairo, Egypt., Atia HA; Department of Pharmacology and Toxicology, College of Pharmacy, Hail University, Hail, Kingdom of Saudi Arabia.; Department of Biochemistry, Faculty of Pharmacy (Girls), Al Azhar University, Cairo, Egypt., Eissa NR; Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, Dokki, Cairo, 12311, Egypt. nr.eissa@yahoo.com.; National Research Centre, Cairo, Egypt. nr.eissa@yahoo.com., Aboul-Ezz EH; National Research Centre, Cairo, Egypt.; Division of Oral & Dental Research, Department of Basic Dental Sciences, Dokki, Cairo, 12311, Egypt., Ibrahim MM; National Research Centre, Cairo, Egypt.; Division of Human Genetics and Genome Research, Department of Biochemical Genetics, Dokki, Cairo, 12311, Egypt., Hassan HA; Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, Dokki, Cairo, 12311, Egypt.; National Research Centre, Cairo, Egypt., Temtamy SA; National Research Centre, Cairo, Egypt.; Division of Human Genetics and Genome Research, Department of Clinical Genetics, Dokki, Cairo, 12311, Egypt.

المصدر: Journal, genetic engineering & biotechnology [J Genet Eng Biotechnol] 2021 Aug 03; Vol. 19 (1), pp. 111. Date of Electronic Publication: 2021 Aug 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101317150 Publication Model: Electronic Cited Medium: Internet ISSN: 2090-5920 (Electronic) Linking ISSN: 1687157X NLM ISO Abbreviation: J Genet Eng Biotechnol Subsets: PubMed not MEDLINE

المؤلفون: Fateen EM; Department of Biochemical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address: efateen@yahoo.com., El Mawgoud HA; Department of Biochemistry, Faculty of pharmacy (Girls), Al Azhar University, Cairo, Egypt. Electronic address: hananmoawad@gmail.com., Eissa NR; Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address: nr.eissa@yahoo.com., Ibrahim MM; Department of Biochemical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address: monamahmoud60@yahoo.com., Aglan MS; Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address: drmona_aglan@yahoo.com., Essawi ML; Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address: mlessawi@yahoo.com.

المصدر: Gene [Gene] 2017 Feb 05; Vol. 600, pp. 48-54. Date of Electronic Publication: 2016 Nov 05.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Chondroitinsulfatases/*genetics , Mucopolysaccharidosis IV/*enzymology , Mucopolysaccharidosis IV/*genetics, Case-Control Studies ; Child ; Child, Preschool ; Codon, Nonsense ; Consanguinity ; DNA Mutational Analysis ; Egypt ; Female ; Homozygote ; Humans ; Male ; Mucopolysaccharidosis IV/pathology ; Mutation, Missense

المؤلفون: Aboul Nasr AL; Gynecology and Obstetrics Department, Faculty ofMedicine, Cairo University, Cairo, Egypt., Fateen EM

المصدر: Bratislavske lekarske listy [Bratisl Lek Listy] 2008; Vol. 109 (11), pp. 493-6.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: AEP Press Country of Publication: Slovakia NLM ID: 0065324 Publication Model: Print Cited Medium: Print ISSN: 0006-9248 (Print) Linking ISSN: 00069248 NLM ISO Abbreviation: Bratisl Lek Listy Subsets: MEDLINE

مواضيع طبية MeSH: Prenatal Diagnosis*, Sphingolipidoses/*diagnosis, Adult ; Chorionic Villi Sampling ; Clinical Enzyme Tests ; Female ; Genetic Counseling ; Humans ; Pedigree ; Pregnancy ; Sphingolipidoses/genetics