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1 . Academic Journal
A Potential Involvement of PCSK9 in Autism Etiology: Sequence Variations, Protein Concentration and Promoter Methylation
저자
by
Salem, Sohair
;
Mosaad, Rehab
;
Lotfy, Randa
;
Ashaat, Engy
;
Ismail, Samira
.
소스
In
Archives of Medical Research
September 2023 54(6)
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7 . Academic Journal
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome
저자
by
Khairat, Rabab
;
Elhossini, Rasha
;
Sobreira, Nara
;
Wohler, Elizabeth
;
Otaify, Ghada
, et al.
소스
In
European Journal of Medical Genetics
January 2022 65(1)
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7 . Academic Journal
Metabolic abnormalities in young Egyptian women with polycystic ovary syndrome and their relation to ADIPOQ gene variants and body fat phenotype
저자
by
Zaki, Moushira
;
Kholoussi, Shams
;
Ismail, Somaia
;
Raouf, Haiam Abdel
;
Helwa, Iman
, et al.
소스
In
Egyptian Journal of Medical Human Genetics
October 2015 16(4):367-374
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7 . Academic Journal
Phelan-McDermid Syndrome: Expanding the Phenotype.
저자
by
El-Bassyouni, Hala T.
;
Eid, Ola M.
;
Ismail, Samira
;
El-Ruby, Mona O.
;
Ashaat, Engy A.
, et al.
소스
Middle East Journal of Medical Genetics; Jul2022, Vol. 11 Issue 2, p46-53, 8p
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7 . Academic Journal
Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients.
저자
by
Megahed, Hisham
;
Ashaat, Engy A.
;
Ismail, Samira
;
Ashaat, Neveen A.
;
Cantagrel, Vincent
, et al.
소스
Middle East Journal of Medical Genetics; Jan2022, Vol. 11 Issue 1, p29-37, 9p
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7 . Academic Journal
First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.
저자
by
Thomas, Manal M.
;
Ashaat, Engy A.
;
Otaify, Ghada A.
;
Ismail, Samira
;
Essawi, Mona L.
, et al.
소스
Molecular Syndromology; 2021, Vol. 12 Issue 5, p279-288, 10p
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7 . Academic Journal
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
저자
by
Zaki, Maha S.
;
Issa, Mahmoud Y.
;
Thomas, Manal M.
;
Elbendary, Hasnaa M.
;
Rafat, Karima
, et al.
소스
Neurological Sciences
. Jul2021, Vol. 42 Issue 7, p2737-2745. 9p. 2 Black and White Photographs, 4 Graphs.
Web of Science
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7 . Academic Journal
Autism spectrum disorder and achondroplasia in an Egyptian patient.
저자
by
Ismail, Samira
;
Megahed, Hisham
;
Ismail, Somaya
;
Hindawy, Amina
.
소스
Middle East Journal of Medical Genetics; Jul-Dec2021, Vol. 10 Issue 2, p101-104, 4p
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6 . Academic Journal
Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature.
저자
by
Mekkawy, Mona K.
;
Kamel, Alaa K.
;
Thomas, Manal M.
;
Ashaat, Engy A.
;
Zaki, Maha S.
, et al.
소스
Molecular Genetics & Genomic Medicine
. Feb2021, Vol. 9 Issue 2, p1-17. 17p.
Open Access (Wiley)
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7 . Academic Journal
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.
저자
by
Maddirevula, Sateesh
;
Shamseldin, Hanan E.
;
Sirr, Amy
;
AlAbdi, Lama
;
Lo, Russell S.
, et al.
소스
Frontiers in Genetics; 12/31/2020, Vol. 11, pN.PAG-N.PAG, 10p
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