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Author/Creator Ramzan, Shafaq

1. An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan. Issue 9 (17th July 2020)

Authors:
Rasool, Sajida; Baig, Jamshaid Mahmood; Moawia, Abubakar; Ahmad, Ilyas; Iqbal, Maria; Waseem, Syeda Seema; Asif, Maria; Abdullah, Uzma; Makhdoom, Ehtisham Ul Haq; Kaygusuz, Emrah; Zakaria, Muhammad; Ramzan, Shafaq; Haque, Saif ul; Mir, Asif; Anjum, Iram; Fiaz, Mehak; Ali, Zafar; Tariq, Muhammad; ...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 9(2020)
Page Start:
n/a
Record Type:
Journal Article
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3. Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families. (September 2019)

Authors:
Zulfiqar, Shumaila; Tariq, Muhammad; Ali, Zafar; Fatima, Ambrin; Klar, Joakim; Abdullah, Uzma; Ali, Aamir; Ramzan, Shafaq; He, Sijie; Zhang, Jianguo; Khan, Ayaz; Shah, Suleman; Khan, Sheraz; Makhdoom, Ehtishamul Haq; Schuster, Jens; Dahl, Niklas; Baig, Shahid Mahmood
Journal:
Journal of clinical neuroscience
Issue:
Volume 67(2019)
Page Start:
19
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗