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Author/Creator Riazuddin, Saima

1. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Issue 8 (21st May 2019)

Authors:
Larson, Eric D.; Magno, Jose Pedrito M.; Steritz, Matthew J.; Llanes, Erasmo Gonzalo d.V.; Cardwell, Jonathan; Pedro, Melquiadesa; Roberts, Tori Bootpetch; Einarsdottir, Elisabet; Rosanes, Rose Anne Q.; Greenlee, Christopher; Santos, Rachel Ann P.; Yousaf, Ayesha; Streubel, Sven‐Olrik; Santos, Ai...
Journal:
Human mutation
Issue:
Volume 40:Issue 8(2019)
Page Start:
1156
Record Type:
Journal Article
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2. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Issue 8 (21st May 2019)

Authors:
Larson, Eric D.; Magno, Jose Pedrito M.; Steritz, Matthew J.; Llanes, Erasmo Gonzalo d.V.; Cardwell, Jonathan; Pedro, Melquiadesa; Roberts, Tori Bootpetch; Einarsdottir, Elisabet; Rosanes, Rose Anne Q.; Greenlee, Christopher; Santos, Rachel Ann P.; Yousaf, Ayesha; Streubel, Sven‐Olrik; Santos, Ai...
Journal:
Human mutation
Issue:
Volume 40:Issue 8(2019)
Page Start:
1156
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. Issue 11 (22nd September 2011)

Authors:
Schultz, Julie M; Bhatti, Rashid; Madeo, Anne C; Turriff, Amy; Muskett, Julie A; Zalewski, Christopher K; King, Kelly A; Ahmed, Zubair M; Riazuddin, Saima; Ahmad, Nazir; Hussain, Zawar; Qasim, Muhammad; Kahn, Shaheen N; Meltzer, Meira R; Liu, Xue Z; Munisamy, Murali; Ghosh, Manju; Rehm, Heidi L; ...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 11(2011)
Page Start:
767
Record Type:
Journal Article
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4. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. (5th November 2018)

Authors:
Schrauwen, Isabelle; Giese, Arnaud PJ; Aziz, Abdul; Lafont, David Tino; Chakchouk, Imen; Santos‐Cortez, Regie Lyn P; Lee, Kwanghyuk; Acharya, Anushree; Khan, Falak Sher; Ullah, Asmat; Nickerson, Deborah A; Bamshad, Michael J; Ali, Ghazanfar; Riazuddin, Saima; Ansar, Muhammad; Ahmad, Wasim; Ahmed,...
Journal:
Journal of bone and mineral research
Issue:
Volume 34:Number 2(2019)
Page Start:
375
Record Type:
Journal Article
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6. Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss. Issue 3 (14th June 2013)

Authors:
Shahzad, Mohsin; Sivakumaran, Theru A.; Qaiser, Tanveer A.; Schultz, Julie M.; Hussain, Zawar; Flanagan, Megan; Bhinder, Munir A.; Kissell, Diane; Greinwald, John H.; Khan, Shaheen N.; Friedman, Thomas B.; Zhang, Kejian; Riazuddin, Saima; Riazuddin, Sheikh; Ahmed, Zubair M.
Journal:
Otolaryngology--head and neck surgery
Issue:
Volume 149:Issue 3(2013)
Page Start:
478
Record Type:
Journal Article
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7. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Issue 1 (18th November 2018)

Authors:
Richard, Elodie M.; Santos‐Cortez, Regie Lyn P.; Faridi, Rabia; Rehman, Atteeq U.; Lee, Kwanghyuk; Shahzad, Mohsin; Acharya, Anushree; Khan, Asma A.; Imtiaz, Ayesha; Chakchouk, Imen; Takla, Christina; Abbe, Izoduwa; Rafeeq, Maria; Liaqat, Khurram; Chaudhry, Taimur; Bamshad, Michael J.; Nickerson,...
Journal:
Human mutation
Issue:
Volume 40:Issue 1(2019)
Page Start:
53
Record Type:
Journal Article
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8. Identification and clinical characterization of Hermansky–Pudlak syndrome alleles in the Pakistani population. (18th December 2015)

Authors:
Yousaf, Sairah; Shahzad, Mohsin; Kausar, Tasleem; Sheikh, Shakeel A.; Tariq, Nabeela; Shabbir, Asra S.; Ali, Muhammad; Waryah, Ali M.; Shaikh, Rehan S.; Riazuddin, Saima; Ahmed, Zubair M.
Journal:
Pigment cell & melanoma research
Issue:
Volume 29:Number 2(2016:Mar.)
Page Start:
231
Record Type:
Journal Article
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9. Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population. (22nd September 2015)

Authors:
Shahzad, Mohsin; Sires Campos, Julia; Tariq, Nabeela; Herraiz Serrano, Cecilia; Yousaf, Rizwan; Jiménez‐Cervantes, Celia; Yousaf, Sairah; Waryah, Yar M.; Dad, Haseeb A.; Blue, Elizabeth M.; Sobreira, Nara; López‐Giráldez, Francesc; University of Washington Center for Mendelian Genomics; Kausar, T...
Journal:
Pigment cell & melanoma research
Issue:
Volume 28:Number 6(2015:Nov.)
Page Start:
730
Record Type:
Journal Article
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