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1دورية أكاديمية
المؤلفون: Heba A. Hassan, Nagia A. Fahmy, Nagham M. El-Bagoury, Noura R. Eissa, Wessam E. Sharaf-Eldin, Mahmoud Y. Issa, Maha S. Zaki, Mona L. Essawi
المصدر: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-9 (2022)
مصطلحات موضوعية: Spinal muscular atrophy, SMN1, SMN2, NAIP, MLPA, SMA, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2090-2441
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2دورية أكاديمية
المؤلفون: Mona L. Essawi, Ekram M. Fateen, Hanan A. Atia, Noura R. Eissa, Eman H. Aboul-Ezz, Mona M. Ibrahim, Heba A. Hassan, Samia A. Temtamy
المصدر: Journal of Genetic Engineering and Biotechnology, Vol 19, Iss 1, Pp 1-10 (2021)
مصطلحات موضوعية: Mucolipidosis, GNPTAB gene, NGS, ML II, Egyptian, Mutations, Biotechnology, TP248.13-248.65, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2090-5920
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3دورية أكاديمية
المؤلفون: Mona L. Essawi, Manal F. Ismail, Hanan H. Afifi, Maha M. Kobesiy, Ahmed El Kotoury, Maged M. Barakat
المصدر: Journal of the Formosan Medical Association, Vol 112, Iss 11, Pp 707-712 (2013)
مصطلحات موضوعية: Egyptian patients, mutational analysis, Noonan syndrome, PTPN11, SHP-2, Medicine (General), R5-920
وصف الملف: electronic resource
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المؤلفون: Maha S. Zaki, Wessam E. Sharaf‐Eldin, Karima Rafat, Hasnaa M. Elbendary, Mona Kamel, Nour Elkhateeb, Mahmoud M. Noureldeen, Mohamed A. Abdeltawab, Abdelrahim A. Sadek, Mona L. Essawi, Tracy Lau, David Murphy, Mohamed S. Abdel‐Hamid, Henry Holuden, Mahmoud Y. Issa, Joseph G. Gleeson
المصدر: Clinical Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Ghada A. Otaify, Engy A. Ashaat, Mona Aglan, Mona L. Essawi, Samira Ismail, Manal M. Thomas, Mohamed Abdelhamid, Sonia A. Alsaiedi, Samia A. Temtamy, Mona O. El Ruby, Heba A. Hassan
المصدر: Molecular Syndromology. 12:279-288
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Respiratory distress, business.industry, medicine.disease, Short stature, Frameshift mutation, Dysplasia, Hypospadias, Genetics, medicine, Desbuquois Dysplasia, Missense mutation, Differential diagnosis, medicine.symptom, business, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::752295288919b00ea364b1893a70f7da
https://doi.org/10.1159/000516607 -
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المؤلفون: Mona L. Essawi, Miral Refeat, B R Sakr, Nirmeen A. Kishk, Wessam E. Sharaf-Eldin, Hazem El-Hariri, Nagham M El-Bagoury
المصدر: Archives of Iranian Medicine. 23:678-687
مصطلحات موضوعية: Adult, Male, Oncology, medicine.medical_specialty, Multiple Sclerosis, Disease, Real-Time Polymerase Chain Reaction, Diagnosis, Differential, Internal medicine, medicine, Humans, Spectrum disorder, Neuromyelitis optica, business.industry, Multiple sclerosis, Neuromyelitis Optica, Healthy subjects, Area under the curve, General Medicine, Middle Aged, medicine.disease, MicroRNAs, Area Under Curve, Case-Control Studies, Cohort, Biomarker (medicine), Female, business, Biomarkers
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المؤلفون: Mona L. Essawi, Wessam E. Sharaf-Eldin, Nagham M El-Bagoury, Ekram M. Fateen, Engy A. Ashaat
المصدر: Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-7 (2021)
مصطلحات موضوعية: Medicine (General), medicine.medical_specialty, Newborn screening, Mutation, Glycogen accumulation, business.industry, Molecular analysis, Pseudodeficiency allele, Genetic disorder, Pompe disease, Disease, Acid α-glucosidase, QH426-470, medicine.disease, medicine.disease_cause, Gastroenterology, R5-920, Internal medicine, Cohort, Pseudodeficiency alleles, Genetics, medicine, business, Genetics (clinical)
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المؤلفون: Mona K. Mekkawy, Inas Mazen, Mona L. Essawi, Heba Amin Hassan
المصدر: Hormones. 19:573-579
مصطلحات موضوعية: Adult, Male, endocrine system, Adolescent, medicine.drug_class, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Consanguinity, 030204 cardiovascular system & hematology, Compound heterozygosity, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Testis, medicine, Humans, Gene, Genetics, Disorder of Sex Development, 46,XY, business.industry, General Medicine, Receptors, LH, medicine.disease, Pedigree, Hormone receptor, Leydig cell hypoplasia, Female, Gonadotropin, business, Luteinizing hormone, Hormone
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce3198fee03acbe20c1708fb188e12de
https://doi.org/10.1007/s42000-020-00226-6 -
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المؤلفون: Maha S. Zaki, Magda F. Mohamed, Ekram Fateen, Asmaa F. Abdel-aleem, Heba A. Hassan, Mona L. Essawi, M. A. Badawy
المصدر: Open Access Macedonian Journal of Medical Sciences, Vol 8, Iss A (2020)
مصطلحات موضوعية: NPC1 gene, Mutant, lcsh:Medicine, 030209 endocrinology & metabolism, law.invention, 03 medical and health sciences, Exon, 0302 clinical medicine, law, medicine, Missense mutation, 030212 general & internal medicine, Allele, Gene, Polymerase chain reaction, Genetics, Niemann–Pick disease, type C, business.industry, Niemann-Pick disease type C, lcsh:R, NPC2 gene, General Medicine, medicine.disease, Hot spot residues, NPC1, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ca3b90f3b67dcc3e4be53c29f7d2a91
https://doi.org/10.3889/oamjms.2020.4626 -
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المؤلفون: Heba A. Hassan, Hanan Abd Elmawgoud Atia, Samia A. Temtamy, Ekram M. Fateen, Eman Aboul-Ezz, Mona M. Ibrahim, Mona L. Essawi, Noura R. Eissa
المصدر: Journal of Genetic Engineering & Biotechnology
Journal of Genetic Engineering and Biotechnology, Vol 19, Iss 1, Pp 1-10 (2021)مصطلحات موضوعية: 0301 basic medicine, QH426-470, Biology, Compound heterozygosity, GNPTAB gene, medicine.disease_cause, Inclusion bodies, Frameshift mutation, 03 medical and health sciences, Exon, 0302 clinical medicine, ML II, Genetics, medicine, Egyptian, chemistry.chemical_classification, Mutation, Mucolipidosis, Research, medicine.disease, 030104 developmental biology, Enzyme, chemistry, NGS, 030220 oncology & carcinogenesis, TP248.13-248.65, Mutations, Biotechnology