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Author/Creator Qari, Alya

2. KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability. Issue 11 (31st August 2016)

Authors:
Kaya, Namik; Alsagob, Maysoon; D'Adamo, Maria Cristina; Al-Bakheet, Albandary; Hasan, Sonia; Muccioli, Maria; Almutairi, Faten B; Almass, Rawan; Aldosary, Mazhor; Monies, Dorota; Mustafa, Osama M; Alyounes, Banan; Kenana, Rosan; Al-Zahrani, Jawaher; Naim, Eva; Binhumaid, Faisal S; Qari, Alya; Alm...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 11(2016)
Page Start:
786
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion. Issue 1 (4th May 2021)

Authors:
Aldosary, Mazhor; Baselm, Shahad; Abdulrahim, Maha; Almass, Rawan; Alsagob, Maysoon; AlMasseri, Zainab; Huma, Rozeena; AlQuait, Laila; Al‐Shidi, Tarfa; Al‐Obeid, Eman; AlBakheet, Albandary; Alahideb, Basma; Alahaidib, Lujane; Qari, Alya; Taylor, Robert W.; Colak, Dilek; AlSayed, Moeenaldeen D.; K...
Journal:
JIMD reports
Issue:
Volume 60:Issue 1(2021)
Page Start:
75
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. The many faces of peroxisomal disorders: Lessons from a large Arab cohort. Issue 2 (18th December 2018)

Authors:
Alshenaifi, Jumanah; Ewida, Nour; Anazi, Shams; Shamseldin, Hanan E.; Patel, Nisha; Maddirevula, Sateesh; Al‐Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Ibrahim, Niema; Hashem, Mais; Abdulwahab, Firdous; Jacob, Minnie; Alhashem, Amal; Alzaidan, Hamad I.; Seidahmed, Mohammed Z.; Alhashemi, Nadia; ...
Journal:
Clinical genetics
Issue:
Volume 95:Issue 2(2019)
Page Start:
310
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗