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Author/Creator Alhashem, Amal M

1. Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly. Issue 4 (5th April 2021)

Authors:
Drissi, Ichrak; Fletcher, Emily; Shaheen, Ranad; Nahorski, Michael; Alhashem, Amal M; Lisgo, Steve; Fernández-Jaén, Alberto; Schon, Katherine; Tlili-Graiess, Kalthoum; Smithson, Sarah F; Lindsay, Susan; J Sharpe, Hayley; Alkuraya, Fowzan S; Woods, Geoff
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 4(2022)
Page Start:
358
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. Issue 4 (5th October 2019)

Authors:
Ghosh, Shereen Georges; Wang, Lu; Breuss, Martin W; Green, Joshua D; Stanley, Valentina; Yang, Xiaoxu; Ross, Danica; Traynor, Bryan J; Alhashem, Amal M; Azam, Matloob; Selim, Laila; Bastaki, Laila; Elbastawisy, Hanan I; Temtamy, Samia; Zaki, Maha; Gleeson, Joseph G
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 4(2020)
Page Start:
274
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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