Search

Author/Creator Friedman, Thomas B

1. A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct. Issue 10 (5th August 2017)

Authors:
Chattaraj, Parna; Munjal, Tina; Honda, Keiji; Rendtorff, Nanna D; Ratay, Jessica S; Muskett, Julie A; Risso, Davide S; Roux, Isabelle; Gertz, E Michael; Schäffer, Alejandro A; Friedman, Thomas B; Morell, Robert J; Tranebjærg, Lisbeth; Griffith, Andrew J
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 10(2017)
Page Start:
665
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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. Issue 7 (23rd March 2018)

Authors:
Ahmed, Zubair M; Jaworek, Thomas J; Sarangdhar, Gowri N; Zheng, Lili; Gul, Khitab; Khan, Shaheen N; Friedman, Thomas B; Sisk, Robert A; Bartles, James R; Riazuddin, Sheikh; Riazuddin, Saima
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 7(2018)
Page Start:
479
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy. (2nd January 2019)

Authors:
Tona, Risa; Chen, Wenqian; Nakano, Yoko; Reyes, Laura D; Petralia, Ronald S; Wang, Ya-Xian; Starost, Matthew F; Wafa, Talah T; Morell, Robert J; Cravedi, Kevin D; du Hoffmann, Johann; Miyoshi, Takushi; Munasinghe, Jeeva P; Fitzgerald, Tracy S; Chudasama, Yogita; Omori, Koichi; Pierpaoli, Carlo; B...
Journal:
Human molecular genetics
Issue:
Volume 28:Number 9(2019)
Page Start:
1530
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗