Zobrazeno 1 - 5 of 5 pro vyhledávání: '"Sally G. Abd Allah"'
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Akademický článek
Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature
Autor: Mona K. Mekkawy, Alaa K. Kamel, Manal M. Thomas, Engy A. Ashaat, Maha S. Zaki, Ola M. Eid, Samira Ismail, Saida A. Hammad, Hisham Megahed, Heba ElAwady, Khaled M. Refaat, Shymaa Hussien, Nivine Helmy, Sally G. Abd Allah, Amal M. Mohamed, Mona O. El Ruby
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Abstract Background Wolf–Hirschhorn syndrome (WHS) (OMIM 194190) is a multiple congenital anomalies/intellectual disability syndrome. It is caused by partial loss of genetic material from the distal portion of the short arm of chromosome. Methods W
Externí odkaz: https://doaj.org/article/cfd0db8f10ef41f3ad524533549fc2ed
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2
Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant
Autor: Hanan H. Afifi, Ghada El-Kamah, Shymaa H Hussein, Alaa K. Kamel, Sayda Hammad, Amal M. Mohamed, Mohammed M. Sayed-Ahmed, Sally G. Abd Allah
Publikováno v: J Pediatr Genet
Paternal microduplication of 11p14.3-p15.5 causes the clinical manifestations of Beckwith–Wiedemann syndrome (BWS), while microdeletion of 18q23-ter is clinically characterized by short stature, congenital malformations, and developmental delay. We
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43fd75b1830219d3d407c2ad7671e087
https://doi.org/10.1055/s-0040-1708554
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3
Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature
Autor: Ola M. Eid, Amal M. Mohamed, Hisham Megahed, Manal M. Thomas, Mona K. Mekkawy, Mona O. El Ruby, Alaa K. Kamel, Sally, G, Abd Allah, Heba ElAwady, Saida A Hammad, Khaled M Refaat, Nivine A. Helmy, Engy A. Ashaat, Maha S. Zaki, Samira Ismail, Shymaa Hussien
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Background Wolf–Hirschhorn syndrome (WHS) (OMIM 194190) is a multiple congenital anomalies/intellectual disability syndrome. It is caused by partial loss of genetic material from the distal portion of the short arm of chromosome. Methods We studied
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07182564f4e06831ad33d3b2f33edd5c
https://doi.org/10.1002/mgg3.1546
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4
ASSESSMENT OF SOME GENETIC AND ENVIRONMENTAL RISK FACTORS IN PATIENTS WITH CONGENITAL HEART DISEASES ASSOCIATED WITH PULMONARY HYPERTENSION
Autor: Mona, O, El Ruby, Ragab M. H., Sally, G, Abd Allah, Mohamed Amal
Publikováno v: Journal of Environmental Science. 41:49-75
Congenital heart disease (CHDs) -whether it is associated with pulmonary hypertension (PH) or not- is the most common malformation in children. It is an important cause of infant mortality, long term morbidity and disability. Aim of the study is to a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::07b73ba052b634d4e5b8cb45e9a9d48c
https://doi.org/10.21608/jes.2018.21773
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