Search

Author/Creator Faridi, Rabia

2. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome. Issue 2 (12th December 2018)

Authors:
Faridi, Rabia; Tona, Risa; Brofferio, Alessandra; Hoa, Michael; Olszewski, Rafal; Schrauwen, Isabelle; Assir, Muhammad Z.K.; Bandesha, Akhtar A.; Khan, Asma A.; Rehman, Atteeq U.; Brewer, Carmen; Ahmed, Wasim; Leal, Suzanne M.; Riazuddin, Sheikh; Boyden, Steven E.; Friedman, Thomas B.
Journal:
Human mutation
Issue:
Volume 40:Issue 2(2019)
Page Start:
162
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. Issue 10 (21st August 2016)

Authors:
Rehman, Atteeq U.; Bird, Jonathan E.; Faridi, Rabia; Shahzad, Mohsin; Shah, Sujay; Lee, Kwanghyuk; Khan, Shaheen N.; Imtiaz, Ayesha; Ahmed, Zubair M.; Riazuddin, Saima; Santos‐Cortez, Regie Lyn P.; Ahmad, Wasim; Leal, Suzanne M.; Riazuddin, Sheikh; Friedman, Thomas B.
Journal:
Human mutation
Issue:
Volume 37:Issue 10(2016)
Page Start:
991
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Variants of human CLDN9 cause mild to profound hearing loss. Issue 10 (1st August 2021)

Authors:
Ramzan, Memoona; Philippe, Christophe; Belyantseva, Inna A.; Nakano, Yoko; Fenollar‐Ferrer, Cristina; Tona, Risa; Yousaf, Rizwan; Basheer, Rasheeda; Imtiaz, Ayesha; Faridi, Rabia; Munir, Zunaira; Idrees, Hafiza; Salman, Midhat; Nambot, Sophie; Vitobello, Antonio; Kartti, Souad; Zarrik, Oumaima; W...
Journal:
Human mutation
Issue:
Volume 42:Issue 10(2021)
Page Start:
1321
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy. Issue 6 (13th March 2023)

Authors:
Faridi, Rabia; Yousaf, Rizwan; Gu, Shoujun; Inagaki, Sayaka; Turriff, Amy E.; Pelstring, Keith; Guan, Bin; Naik, Amelia; Griffith, Andrew J.; Adadey, Samuel Mawuli; Aboagye, Elvis Twumasi; Awandare, Gordon A.; Morell, Robert J.; Tsilou, Ekaterini; Noyes, Amanda G.; Sulmonte, Laura A. G.; Wonkam, ...
Journal:
Clinical genetics
Issue:
Volume 103:Issue 6(2023)
Page Start:
699
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome. Issue 2 (3rd November 2020)

Authors:
Wafa, Talah T.; Faridi, Rabia; King, Kelly A.; Zalewski, Christopher; Yousaf, Rizwan; Schultz, Julie M.; Morell, Robert J.; Muskett, Julie; Turriff, Amy; Tsilou, Ekaterini; Griffith, Andrew J.; Friedman, Thomas B.; Zein, Wadih M.; Brewer, Carmen C.
Journal:
Clinical genetics
Issue:
Volume 99:Issue 2(2021)
Page Start:
226
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗