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Yigit, Gökhan
336
results:
Format
Online (336)
Mediatypes
Articles (Online) (102)
Bookchapter (Online) (4)
OpenAccess-fulltext (229)
Thesis (Online) (1)
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german (2)
english (268)
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1
Expansion of the complex genotypic and phenotypic spectrum ..:
Schmidt, Julia
;
Kaulfuß, Silke
;
Ott, Hagen
...
Human Genetics. 143 (2024) 2 - p. 159-168 , 2024
Link:
https://doi.org/10.1007/..
?
2
Functional characterization of PI3K C2 domain mutations det..:
Smit, Daniel J.
;
Brauer, Helena
;
Horn, Stefan
...
Cellular Signalling. , 2024
Link:
https://doi.org/10.1016/..
?
3
Homozygous loss-of-function variants in FILIP1 cause autoso..:
Schnabel, Franziska
;
Schuler, Elisabeth
;
Al-Maawali, Almundher
...
Human Genetics. 142 (2023) 4 - p. 543-552 , 2023
Link:
https://doi.org/10.1007/..
?
4
The challenges of research data management in cardiovascula..:
Steffens, Sabine
;
Schröder, Katrin
;
Krüger, Martina
...
Clinical Research in Cardiology. 113 (2023) 5 - p. 672-679 , 2023
Link:
https://doi.org/10.1007/..
?
5
Expanding the spectrum of EEF1D neurodevelopmental disorder..:
Averdunk, Luisa
;
Al‐Thihli, Khalid
;
Surowy, Harald
...
Clinical Genetics. 103 (2023) 4 - p. 484-491 , 2023
Link:
https://doi.org/10.1111/..
?
6
Lysinuric protein intolerance caused by a homozygous SLC7A7..:
Kalay, Irem
;
Aykut, Hüseyin
;
Caliskan, Zuhal
..
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101022 , 2023
Link:
https://doi.org/10.1016/..
?
7
Null and missense mutations of ERI1 cause a recessive pheno..:
Guo, Long
;
Salian, Smrithi
;
Xue, Jing-yi
...
The American Journal of Human Genetics. 110 (2023) 7 - p. 1068-1085 , 2023
Link:
https://doi.org/10.1016/..
?
8
The genetic spectrum of congenital ocular motor apraxia typ..:
Schröder, Simone
;
Yigit, Gökhan
;
Li, Yun
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
9
Phenotypic spectrum of BLM‐ and RMI1‐related Bloom syndrome:
Gönenc, Ipek Ilgin
;
Elcioglu, Nursel H.
;
Martinez Grijalva, Carolina
...
Clinical Genetics. 101 (2022) 5-6 - p. 559-564 , 2022
Link:
https://doi.org/10.1111/..
?
10
Single-cell transcription profiles in Bloom syndrome patien..:
Gönenc, Ipek Ilgin
;
Wolff, Alexander
;
Schmidt, Julia
...
Human Molecular Genetics. 31 (2022) 13 - p. 2185-2193 , 2022
Link:
https://doi.org/10.1093/..
?
11
Somatic mosaicism in STAG2-associated cohesinopathies: Expa..:
Schmidt, Julia
;
Dreha-Kulaczewski, Steffi
;
Zafeiriou, Maria-Patapia
...
Frontiers in Cell and Developmental Biology. 10 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
12
A novel single-cell RNA-sequencing approach and its applica..:
Shomroni, Orr
;
Sitte, Maren
;
Schmidt, Julia
...
Scientific Reports. 12 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1038/..
?
13
WARS1andSARS1: Two tRNA synthetases implicated in autosomal..:
Bögershausen, Nina
;
Krawczyk, Hannah E.
;
Jamra, Rami A.
...
Human Mutation. 43 (2022) 10 - p. 1454-1471 , 2022
Link:
https://doi.org/10.1002/..
?
14
MFSD2A-associated primary microcephaly - Expanding the clin..:
Khuller, Katharina
;
Yigit, Gökhan
;
Martínez Grijalva, Carolina
...
European Journal of Medical Genetics. 64 (2021) 10 - p. 104310 , 2021
Link:
https://doi.org/10.1016/..
?
15
Genomic basis of syndromic short stature in an Algerian pat..:
Moosa, Shahida
;
Chentli, Farida
;
Altmüller, Janine
...
American Journal of Medical Genetics Part A. 188 (2021) 2 - p. 606-612 , 2021
Link:
https://doi.org/10.1002/..
1-15