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Author/Creator Bastaki, Laila

1. GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description. Issue 5 (3rd October 2018)

Authors:
Alrohaif, Hadil; Pogoryelova, Oksana; Al‐Ajmi, Abdullah; Aljeryan, Lulwa A.; Alrashidi, Nuwayer H.; Alefasi, Sara A.; Urtizberea, Andoni; Lochmüller, Hanns; Bastaki, Laila
Journal:
Muscle & nerve
Issue:
Volume 58:Issue 5(2018)
Page Start:
700
Record Type:
Journal Article
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3. 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
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4. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Issue 12 (11th October 2018)

Authors:
Zaharieva, Irina T.; Sarkozy, Anna; Munot, Pinki; Manzur, Adnan; O'Grady, Gina; Rendu, John; Malfatti, Eduardo; Amthor, Helge; Servais, Laurent; Urtizberea, J. Andoni; Neto, Osorio Abath; Zanoteli, Edmar; Donkervoort, Sandra; Taylor, Juliet; Dixon, Joanne; Poke, Gemma; Foley, A. Reghan; Holmes, C...
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
1980
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗