المؤلفون: Mohamed S. Abdel-Hamid, Mahmoud Y. Issa, Laila K. Effat, Maha S. Zaki, Lubna M. Desouky, Sherif F. Abdel‐Ghafar, Suzan R. Ismail

المصدر: Clinical Genetics. 98:445-456

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, rab3 GTP-Binding Proteins, DNA Mutational Analysis, 030105 genetics & heredity, medicine.disease_cause, Microphthalmia, Cataract, Cornea, 03 medical and health sciences, Atrophy, Intellectual Disability, Genetics, medicine, Polymicrogyria, Humans, Abnormalities, Multiple, Genetics (clinical), Exome sequencing, Mutation, business.industry, Micro syndrome, Hypogonadism, Brain, medicine.disease, Pedigree, rab1 GTP-Binding Proteins, Optic Atrophy, 030104 developmental biology, rab GTP-Binding Proteins, Microcephaly, Congenital cataracts, Pectus carinatum, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39ec290a0318b8042a2013753c0945ef
https://doi.org/10.1111/cge.13825

المؤلفون: Nagwa A. Meguid, Suzan R. Ismail, Nahla A. Nazmy, Heba A Hassan, Mona L. Essawi, Azzah A. Khedr, Amal M. Mohamed

المصدر: Middle East Journal of Medical Genetics. 5:45-53

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, Pediatrics, medicine.medical_specialty, 030104 developmental biology, business.industry, medicine, Pharmacology (medical), 030105 genetics & heredity, Genetic diagnosis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3d6c23733bf0d113e4deb02dba9a7d8c
https://doi.org/10.1097/01.mxe.0000484369.78928.9e

المؤلفون: Karin Dwidar, Adrianna Mostowska, Suzan R. Ismail, Paweł P. Jagodziński, Ebtesam M. Abdalla

المصدر: Archives of Oral Biology. 59:722-728

مصطلحات موضوعية: Adult, Male, Heterozygote, Candidate gene, Cephalometry, Biology, medicine, Humans, Coding region, Child, General Dentistry, Gene, Anodontia, MSX1 Transcription Factor, Genetics, Cell Biology, General Medicine, Middle Aged, medicine.disease, Pedigree, Wnt Proteins, stomatognathic diseases, Open reading frame, Hypodontia, Otorhinolaryngology, Agenesis, Mutation, Mutation (genetic algorithm), Egypt, Female, PAX9 Transcription Factor, PAX9, Polymorphism, Restriction Fragment Length

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c0fcbd0e05f13755a214b83c9ea3a31
https://doi.org/10.1016/j.archoralbio.2014.04.004

المؤلفون: Amina El-Gezeery, Suzan R. Ismail, Nawal A. El-Sayed, Ebtesam M. Abdallah, Mervat M. Hashish

المصدر: Journal of High Institute of Public Health. 35:537-546

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Newborn screening, Task force, business.industry, Incidence (epidemiology), Galactosemia, Early detection, medicine.disease, Hyperphenylalaninemia, medicine, Euthyroid, business, Dried blood

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::80aa72f1613a9d168a341edc1853fba5
https://doi.org/10.21608/jhiph.2005.171801

المؤلفون: Mervat El Belbesy, Samia M. Kotb, Suzan R. Ismail, Amal Moustafa Abd El Aziz, Hassan El-Hosseiny

المصدر: Journal of High Institute of Public Health. 33:195-210

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Arthrogryposis multiplex congenita, business.industry, Multiple congenital contractures, Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::115d08826acb747d887304c12990380a
https://doi.org/10.21608/jhiph.2003.201390

المؤلفون: Soha F. Kholeif, Boris G. Kousseff, Samia M. Kotb, Suzan R. Ismail

المصدر: American Journal of Medical Genetics. 38:518-522

مصطلحات موضوعية: Male, Hypertrichosis, medicine.medical_specialty, Limb Deformities, Congenital, Cytogenetics, Infant, Short neck, Anatomy, Biology, medicine.disease, Translocation, Genetic, Chromosome Banding, body regions, Chromosome 3, Multigene Family, Gene duplication, medicine, Humans, Chromosomes, Human, Pair 6, Chromosomes, Human, Pair 3, Hypertelorism, medicine.symptom, Heterochrony, Limb morphogenesis, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::977195b63d6614d069caba9b5a61ff23
https://doi.org/10.1002/ajmg.1320380403

المؤلفون: Ehssan E, Baghagho, Ibrahim F, Kharboush, Dalal M, El-Kaffash, Tarek A, KarKour, Suzan R, Ismail, Mona M, Mortada

المصدر: The Journal of the Egyptian Public Health Association. 79(1-2)

مصطلحات موضوعية: Adult, Interviews as Topic, Pregnancy, Prenatal Diagnosis, Humans, Egypt, Female, Gestational Age, Neural Tube Defects, alpha-Fetoproteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::baf2353b3470262d1c2f77cec7b0aea1
https://pubmed.ncbi.nlm.nih.gov/16916050