E-LIB Suche - Ergebnisse für: Cengiz, Filiz Basak

1

Dysfunction ofGRAP, encoding the GRB2-related adaptor prote..:

Li, Chong ; Bademci, Guney ; Subasioglu, Asli...
Proceedings of the National Academy of Sciences. 116 (2019) 4 - p. 1347-1352 , 2019

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

2

Dysfunction of GRAP, encoding the GRB2-related adaptor prot..:

Li, Chong ; Bademci, Guney ; Subasioglu, Asli...
Proceedings of the National Academy of Sciences of the United States of America. 116 (2019) 4 - p. 1347-1352 , 2019

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

3

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplica..:

Su, Meng ; Benke, Paul J. ; Bademci, Guney...
Molecular Cytogenetics. 11 (2018) 1 - p. , 2018

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

4

Ripor2 is involved in auditory hair cell stereociliary bund..:

Diaz-Horta, Oscar ; Abad, Clemer ; Cengiz, Filiz Basak...
Journal of Molecular Medicine. 96 (2018) 11 - p. 1227-1238 , 2018

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

5

Identification of candidate gene FAM183A and novel pathogen..:

McSherry, Megan ; Masih, Katherine E. ; Elcioglu, Nursel H....
PLOS ONE. 13 (2018) 11 - p. e0208324 , 2018

Link: https://doi.org/10.1371/..

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

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/..

9

Audiological findings in Noonan syndrome:

Tokgoz-Yilmaz, Suna ; Turkyilmaz, Meral Didem ; Cengiz, Filiz Basak...
International Journal of Pediatric Otorhinolaryngology. 89 (2016) - p. 50-54 , 2016

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

10

Correction: Whole-Exome Sequencing Efficiently Detects Rare..:

Diaz-Horta, Oscar ; Duman, Duygu ; Foster, Joseph...
PLoS ONE. 8 (2013) 5 - p. , 2013

Link: https://doi.org/10.1371/..

11

Whole-Exome Sequencing Efficiently Detects Rare Mutations i..:

Diaz-Horta, Oscar ; Duman, Duygu ; Foster, Joseph...
PLoS ONE. 7 (2012) 11 - p. e50628 , 2012

Link: https://doi.org/10.1371/..

12

GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency,..:

Tekin, Mustafa ; Xia, Xia‐Juan ; Erdenetungalag, Radnaabazar...
Annals of Human Genetics. 74 (2010) 2 - p. 155-164 , 2010

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

13

A FGF3 mutation associated with differential inner ear malf..:

Ramsebner, Reinhard ; Ludwig, Martin ; Parzefall, Thomas...
The Laryngoscope. 120 (2009) 2 - p. 359-364 , 2009

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

14

Mutations in TMC1 contribute significantly to nonsyndromic ..:

Sırmacı, Aslı ; Duman, Duygu ; Öztürkmen-Akay, Hatice...
International Journal of Pediatric Otorhinolaryngology. 73 (2009) 5 - p. 699-705 , 2009

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

15

Familial neonatal Marfan syndrome due to parental mosaicism..:

Tekin, Mustafa ; Cengiz, Filiz Başak ; Ayberkin, Eda...
American Journal of Medical Genetics Part A. 143A (2007) 8 - p. 875-880 , 2007

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