E-LIB Suche - Ergebnisse für: Foster II, J.

1

Variations in Multiple Syndromic Deafness Genes Mimic Non-s..:

Bademci, G. ; Cengiz, F. B. ; Foster II, J....
Scientific Reports. 6 (2016) 1 - p. , 2016

Link: https://doi.org/10.1038/..

2

A Mayan founder mutation is a common cause of deafness in G..:

Carranza, C. ; Menendez, I. ; Herrera, M....
Clinical Genetics. 89 (2015) 4 - p. 461-465 , 2015

Link: https://doi.org/10.1111/..

3

Comprehensive genetic testing can save lives in hereditary ..:

Tekin, D. ; Tutar, E. ; Ozturkmen Akay, H....
Clinical Genetics. 87 (2014) 2 - p. 190-191 , 2014

Link: https://doi.org/10.1111/..

4

Identification of an IGSF3 mutation in a family with congen..:

Foster II, J. ; Kapoor, S. ; Diaz‐Horta, O....
Clinical Genetics. 86 (2013) 6 - p. 589-591 , 2013

Link: https://doi.org/10.1111/..

5

Novel EYA1 variants causing Branchio-oto-renal syndrome:

Klingbeil, Kyle D. ; Greenland, Christopher M. ; Arslan, Selcuk...
International Journal of Pediatric Otorhinolaryngology. 98 (2017) - p. 59-63 , 2017

Link: https://doi.org/10.1016/..

6

Dominant deafness–onychodystrophy syndrome caused by an ATP..:

Menendez, Ibis ; Carranza, Claudia ; Herrera, Mariana...
Clinical Case Reports. 5 (2017) 4 - p. 376-379 , 2017

Link: https://doi.org/10.1002/..

7

Novel pathogenic variants underlie SLC26A4 -related hearing..:

Cengiz, Filiz Basak ; Yilmazer, Rasim ; Olgun, Levent...
International Journal of Pediatric Otorhinolaryngology. 101 (2017) - p. 167-171 , 2017

Link: https://doi.org/10.1016/..

8

KBG syndrome:

Morel Swols, Dayna ; Foster II, Joseph ; Tekin, Mustafa
Orphanet Journal of Rare Diseases. 12 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

9

Comprehensive analysis via exome sequencing uncovers geneti..:

Bademci, Guney ; Foster II, Joseph ; Mahdieh, Nejat...
Genetics in Medicine. 18 (2016) 4 - p. 364-371 , 2016

Link: https://doi.org/10.1038/..

10

ROR1 is essential for proper innervation of auditory hair c..:

Diaz-Horta, Oscar ; Abad, Clemer ; Sennaroglu, Levent...
Proceedings of the National Academy of Sciences. 113 (2016) 21 - p. 5993-5998 , 2016

Link: https://doi.org/10.1073/..

11

Targeted Resequencing of Deafness Genes Reveals a FounderMY..:

Manzoli, Gabrielle N. ; Bademci, Guney ; Acosta, Angelina X....
Annals of Human Genetics. 80 (2016) 6 - p. 327-331 , 2016

Link: https://doi.org/10.1111/..

12

Spectrum of DNA variants for non-syndromic deafness in a la..:

Yan, Denise ; Tekin, Demet ; Bademci, Guney...
Human Genetics. 135 (2016) 8 - p. 953-961 , 2016

Link: https://doi.org/10.1007/..

13

ROR1 is essential for proper innervation of auditory hair c..:

Diaz-Horta, Oscar ; Abad, Clemer ; Sennaroglu, Levent...
Proceedings of the National Academy of Sciences of the United States of America. 113 (2016) 21 - p. 5993-5998 , 2016

Link: https://www.jstor.org/st..

14

A next-generation sequencing gene panel (MiamiOtoGenes) for..:

Tekin, Demet ; Yan, Denise ; Bademci, Guney...
Hearing Research. 333 (2016) - p. 179-184 , 2016

Link: https://doi.org/10.1016/..

15

Aminoglycoside induced ototoxicity associated with mitochon..:

Foster II, Joseph ; Tekin, Mustafa
Egyptian Journal of Medical Human Genetics. 17 (2016) 3 - p. 287-293 , 2016

Link: https://doi.org/10.1016/..