E-LIB Suche - Ergebnisse für: Sırmacı, Aslı

1

Mutation of the ATP-gated P2X₂ receptor leads to progressiv..:

Yan, Denise ; Zhu, Yan ; Walsh, Tom...
Proceedings of the National Academy of Sciences of the United States of America. 110 (2013) 6 - p. 2228-2233 , 2013

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

2

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/..

3

Mutation of the ATP-gated P2X2receptor leads to progressive..:

Yan, Denise ; Zhu, Yan ; Walsh, Tom...
Proceedings of the National Academy of Sciences. 110 (2013) 6 - p. 2228-2233 , 2013

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

4

Challenges in Whole Exome Sequencing: An Example from Hered..:

Sirmaci, Asli ; Edwards, Yvonne J. K. ; Akay, Hatice..
PLoS ONE. 7 (2012) 2 - p. e32000 , 2012

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

5

Alterations of the CIB2 calcium- and integrin-binding prote..:

Riazuddin, Saima ; Belyantseva, Inna A ; Giese, Arnaud P J...
Nature Genetics. 44 (2012) 11 - p. 1265-1271 , 2012

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

6

Unique spectrum of GJB2 mutations in Mexico:

de la Luz Arenas-Sordo, Maria ; Menendez, Ibis ; Hernández-Zamora, Edgar...
International Journal of Pediatric Otorhinolaryngology. 76 (2012) 11 - p. 1678-1680 , 2012

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

7

GPSM2 mutations in Chudley–McCullough syndrome:

Diaz‐Horta, Oscar ; Sirmaci, Asli ; Doherty, Dan...
American Journal of Medical Genetics Part A. 158A (2012) 11 - p. 2972-2973 , 2012

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

8

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/..

9

Homozygous mutations in the 15-hydroxyprostaglandin dehydro..:

Yüksel-Konuk, Berrin ; Sırmacı, Aslı ; Ayten, Gülen Ece...
Rheumatology International. 30 (2009) 1 - p. 39-43 , 2009

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

10

A complexTFAP2Aallele is associated with branchio‐oculo‐fac..:

Tekin, Mustafa ; Sırmacı, Aslı ; Yüksel‐Konuk, Berrin..
American Journal of Medical Genetics Part A. 149A (2009) 3 - p. 427-430 , 2009

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

11

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/..

12

The c.IVS1+1G>A mutation intheGJB2 gene is prevalent and la..:

Sirmaci, Asli ; Akcayoz-Duman, Duygu ; Tekin, Mustafa
Journal of Genetics. 85 (2006) 3 - p. 213-216 , 2006

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

13

Research of genetic bases of hereditary non-syndromic heari..:

Subaşıoğlu, Aslı ; Duman, Duygu ; Sırmacı, Aslı...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5644578/. , 2017

Link: http://www.ncbi.nlm.nih...

14

Research of genetic bases of hereditary non-syndromic heari..:

Duman, Duygu ; ERKAN, Mustafa ; SOMDAŞ, Mehmet Akif...
769a1c2b-472d-4a86-ae3a-b5de6c84a81f. , 2017

Link: https://doi.org/10.5152/..

15

Mutation of the ATP-gated P2X2 receptor leads to progressiv..:

Yan, Denise ; Zhu, Yan ; Walsh, Tom...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3568371. , 2013

Link: http://www.ncbi.nlm.nih...