E-LIB Suche - Ergebnisse für: Mustafa Tekin

1

The Fukuyama Type Congenital Muscular Dystrophy with hypere..:

Turan, Tunc ; Ilke, Mungan Akin ; Emel, Okulu...
Early Human Development. 84 (2008) - p. S62-S63 , 2008

2

Genetic heterogeneity in hereditary hearing loss: Potential..:

Ramzan, Memoona ; Zafeer, Mohammad Faraz ; Abad, Clemer...
European Journal of Human Genetics. 32 (2024) 6 - p. 639-646 , 2024

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

3

Gene therapy for hereditary deafness:

Smith, Carson ; Zafeer, Mohammad Faraz ; Tekin, Mustafa
Nature Medicine. , 2024

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

4

RExPRT: a machine learning tool to predict pathogenicity of..:

Fazal, Sarah ; Danzi, Matt C. ; Xu, Isaac...
Genome Biology. 25 (2024) 1 - p. , 2024

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

5

EFEMP1 haploinsufficiency causes a Marfan‐like hereditary c..:

Forghani, Irman ; Lang, Steven H. ; Rodier, Matthew J....
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

6

P254: Exome sequencing as a first-tier approach for rare fo..:

Smith, Carson ; Morel, Dayna ; Peart, LéShon..
Genetics in Medicine Open. 2 (2024) - p. 101150 , 2024

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

7

Correction: 6 February 2023, orthopedic experience in Kahra..:

Kundakci, Bugra ; Mirioglu, Akif ; Tekin, Mustafa...
Journal of Orthopaedic Surgery and Research. 19 (2024) 1 - p. , 2024

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

8

Identification of novel MYH14 variants in families with aut..:

Duman, Duygu ; Ramzan, Memoona ; Subasioglu, Asli...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

9

Recurrent ATP1A1 variant Gly903Arg causes developmental del..:

Dohrn, Maike F. ; Bademci, Guney ; Rebelo, Adriana P....
Annals of Clinical and Translational Neurology. 11 (2024) 4 - p. 1075-1079 , 2024

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

10

O23: Diagnostic success of genomic analyses in adults with ..:

Bivona, Stephanie ; Smith, Carson ; Bademci, Guney...
Genetics in Medicine Open. 2 (2024) - p. 101018 , 2024

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

11

P458: EFEMP1 haploinsufficiency causes a Marfan-like heredi..:

Forghani, Irman ; Lang, Steven ; Tekin, Mustafa...
Genetics in Medicine Open. 2 (2024) - p. 101352 , 2024

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

12

ADAMTSL2 mutations determine the phenotypic severity in Gel..:

Camarena, Vladimir ; Williams, Monique M. ; Morales, Alejo A....
JCI Insight. , 2024

Link: https://doi.org/10.1172/..

13

Intra-articular administration of extra-virgin olive oil in..:

Pamiry, Ahmet ; Gökmen, Mehmet Yiğit ; Tekin, Mustafa
Journal of Orthopaedic Surgery and Research. 19 (2024) 1 - p. , 2024

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

14

P642: Diagnostic yield of multi-omics approach in Undiagnos..:

Bademci, Guney ; Bivona, Stephanie ; Peart, LeShon...
Genetics in Medicine Open. 1 (2023) 1 - p. 100707 , 2023

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

15

Wear behavior of in-situ oxide dispersion strengthened Fe-8..:

Tekin, Mustafa ; Muhaffel, Faiz ; Kotan, Hasan.
Journal of Metals, Materials and Minerals. 33 (2023) 1 - p. 1-7 , 2023

Link: https://doi.org/10.55713..