نتائج البحث - "Mona El-Gammal"

المساهمون: National Research Centre - NRC (EGYPT), Génétique du Développement humain - Human developmental genetics, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), The authors acknowledge the Science and Technology Development Fund (STDF), Egypt, and the French Institute of Research for Development (IRD), France., Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)

المصدر: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2021, 185 (6), pp.1666-1677. ⟨10.1002/ajmg.a.62129⟩
American Journal of Medical Genetics Part A, 2021, 185 (6), pp.1666-1677. ⟨10.1002/ajmg.a.62129⟩

مصطلحات موضوعية: Male, disorders of sex development, syndromic DSD, XY DSD, Steroidogenic Factor 1, whole exome sequencing, sex chromosomal abnormalities, Cohort Studies, 0302 clinical medicine, Disorders of sex development, Child, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Exome sequencing, In Situ Hybridization, Fluorescence, Genetics, Sanger sequencing, Histone Demethylases, 0303 health sciences, medicine.diagnostic_test, Fanconi Anemia Complementation Group A Protein, Sexual Development, Genomics, 3. Good health, Testis determining factor, Phenotype, Receptors, Androgen, Child, Preschool, Cohort, symbols, Egypt, Female, Adult, Adolescent, Receptors, Peptide, 030209 endocrinology & metabolism, 03 medical and health sciences, symbols.namesake, Young Adult, Aromatase, HHAT, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, WT1 Proteins, 030304 developmental biology, Homeodomain Proteins, Disorder of Sex Development, 46,XY, Genitourinary system, business.industry, SOXB1 Transcription Factors, Infant, Membrane Proteins, medicine.disease, Mutation, business, Receptors, Transforming Growth Factor beta, Acyltransferases, Fluorescence in situ hybridization, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4515485b6df90f80b56e63145ad927b1
https://pubmed.ncbi.nlm.nih.gov/33742552

View record at Wiley

4

Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome

المؤلفون: Ken McElreavey, Inas Mazen, Mona El-Gammal, Mohamed S. Abdel-Hamid, Aya Elaidy

المصدر: Sexual Development. 11:29-33

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::304fe8f8fc40b7fc52ba15ddd3d44a5c
https://doi.org/10.1159/000455019

5

Capturing complexity while being pressed for time

المؤلفون: Mona el Gammal, Theresa Schütz

المصدر: Staging Spectators in Immersive Performances

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cdab545a39138f6cf875cf416f8d8e4c
https://doi.org/10.4324/9780429198274-14

6

Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis

المؤلفون: Ken McElreavey, Mona L. Essawi, Inas Mazen, Mohamed S. Abdel-Hamid, Anu Bashamboo, Mona K. Mekkawy, Joelle Bignon-Topalovic, Mona El Gammal, Radia Boudjenah

المصدر: Sexual Development. 10:147-151

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bfd1e2d7d7b31a0da3d0c08680c9ff9b
https://doi.org/10.1159/000445983

7

Metabolic abnormalities in young Egyptian women with polycystic ovary syndrome and their relation to ADIPOQ gene variants and body fat phenotype

المؤلفون: Walaa Yousef, Shams Kholoussi, Moushira Erfan Zaki, Mohamed Shaker, Samira Ismail, Haiam Abdel Raouf, Sanaa M. Kamal, Somaia Ismail, Naglaa M. Hassan, Hala T. El-Bassyouni, Nadia A. Mohamed, Omnia M. Saleh, Mamdouh Bibars, Yasser A. Elhosary, Iman Helwa, Osama Azmy, Mona El Gammal, Eman R. Youness, Wafaa M. Ezzat

المصدر: Egyptian Journal of Medical Human Genetics, Vol 16, Iss 4, Pp 367-374 (2015)
Egyptian Journal of Medical Human Genetics; Vol 16, No 4 (2015); 367-374