Search

Author/Creator Al Shamsi, Aisha

4. Homozygous variants in pyrroline‐5‐carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Issue 2 (11th November 2016)

Authors:
Meng, Linyan; Donti, Taraka; Xia, Fan; Niu, Zhiyv; Al Shamsi, Aisha; Hertecant, Jozef; Al‐Jasmi, Fatma; Gibson, James B.; Nagakura, Honey; Zhang, Jing; He, Weimin; Eng, Christine; Yang, Yaping; Elsea, Sarah H.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 2(2017)
Page Start:
460
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Issue 1 (December 2016)

Authors:
Eldomery, Mohammad; Akdemir, Zeynep; Vögtle, F.-Nora; Charng, Wu-Lin; Mulica, Patrycja; Rosenfeld, Jill; Gambin, Tomasz; Gu, Shen; Burrage, Lindsay; Al Shamsi, Aisha; Penney, Samantha; Jhangiani, Shalini; Zimmerman, Holly; Muzny, Donna; Wang, Xia; Tang, Jia; Medikonda, Ravi; Ramachandran, Prasann...
Journal:
Genome medicine
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗