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Author/Creator Rafiullah, Rafiullah

1. A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity. (December 2017)

Authors:
Rafiullah, Rafiullah; Long, Alyssa; Ivanova, Anna; Ali, Hazrat; Berkel, Simone; Mustafa, Ghulam; Paramasivam, Nagarajan; Schlesner, Matthias; Wiemann, Stefan; Wade, Rebecca; Bolthauser, Eugen; Blum, Martin; Kahn, Richard; Caspary, Tamara; Rappold, Gudrun
Journal:
European journal of human genetics
Issue:
Volume 25:Number 12(2017)
Page Start:
1324
Record Type:
Journal Article
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2. An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay. (2nd October 2022)

Authors:
Rafiullah, Rafiullah; Albalawi, Alia M.; Alaradi, Sultan R.; Alluqmani, Majed; Mushtaq, Muhammad; Wali, Abdul; Basit, Sulman
Journal:
Journal of neurogenetics
Issue:
Volume 36:Number 4(2022)
Page Start:
108
Record Type:
Journal Article
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3. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. Issue 2 (13th November 2015)

Authors:
Rafiullah, Rafiullah; Aslamkhan, Muhammad; Paramasivam, Nagarajan; Thiel, Christian; Mustafa, Ghulam; Wiemann, Stefan; Schlesner, Matthias; Wade, Rebecca C; Rappold, Gudrun A; Berkel, Simone
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 2(2016)
Page Start:
138
Record Type:
Journal Article
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