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Elçioğlu, Nursel H.
121
results:
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Online (121)
Mediatypes
Articles (Online) (77)
OpenAccess-fulltext (44)
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1
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:
Martin, Carol-Anne
;
Sarlós, Kata
;
Logan, Clare V.
...
The American Journal of Human Genetics. 111 (2024) 5 - p. 996 , 2024
Link:
https://doi.org/10.1016/..
?
2
Further defining the molecular spectrum and long‐term follo..:
Akalın, Akçahan
;
Ayaz, Ercan
;
Soğukpınar, Merve
...
American Journal of Medical Genetics Part A. , 2024
Link:
https://doi.org/10.1002/..
?
3
HMZDupFinder: a robust computational approach for detecting..:
Du, Haowei
;
Dardas, Zain
;
Jolly, Angad
...
Nucleic Acids Research. 52 (2023) 4 - p. e18-e18 , 2023
Link:
https://doi.org/10.1093/..
?
4
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/..
?
5
From cataract to syndrome diagnosis: Revaluation of Warburg..:
Mutlu Albayrak, Hatice
;
Elçioğlu, Nursel H.
;
Yeter, Burcu
.
American Journal of Medical Genetics Part A. 185 (2021) 8 - p. 2325-2334 , 2021
Link:
https://doi.org/10.1002/..
?
6
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/..
?
7
TNFRSF11A-Associated Dysosteosclerosis: A Report of the Sec..:
Xue, Jing-yi
;
Wang, Zheng
;
Shinagawa, Satoshi
...
Journal of Bone and Mineral Research. 34 (2019) 10 - p. 1873-1879 , 2019
Link:
https://doi.org/10.1002/..
?
8
Dysosteosclerosis is also caused by TNFRSF11A mutation:
Guo, Long
;
Elcioglu, Nursel H.
;
Karalar, Ozge K.
...
Journal of Human Genetics. 63 (2018) 6 - p. 769-774 , 2018
Link:
https://doi.org/10.1038/..
?
9
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/..
?
10
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:
Martin, Carol-Anne
;
Sarlós, Kata
;
Logan, Clare V.
...
The American Journal of Human Genetics. 103 (2018) 3 - p. 456 , 2018
Link:
https://doi.org/10.1016/..
?
11
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:
Martin, Carol-Anne
;
Sarlós, Kata
;
Logan, Clare V.
...
The American Journal of Human Genetics. 103 (2018) 2 - p. 221-231 , 2018
Link:
https://doi.org/10.1016/..
?
12
The oculoauriculofrontonasal syndrome: Further clinical cha..:
Lehalle, Daphné
;
Altunoglu, Umut
;
Bruel, Ange‐Line
...
American Journal of Medical Genetics Part A. 176 (2018) 12 - p. 2740-2750 , 2018
Link:
https://doi.org/10.1002/..
?
13
Further delineation of Malan syndrome:
Priolo, Manuela
;
Schanze, Denny
;
Tatton-Brown, Katrin
...
Human Mutation. 39 (2018) 9 - p. 1226-1237 , 2018
Link:
https://doi.org/10.1002/..
?
14
Insights into Mutation Effect in Three Poikiloderma with Ne..:
Colombo, Elisa A.
;
Elcioglu, Nursel H.
;
Graziano, Claudio
...
Journal of Clinical Immunology. 38 (2018) 4 - p. 494-502 , 2018
Link:
https://doi.org/10.1007/..
?
15
Heterozygous HNRNPU variants cause early onset epilepsy and..:
Bramswig, Nuria C.
;
Lüdecke, Hermann-Josef
;
Hamdan, Fadi F.
...
Human Genetics. 136 (2017) 7 - p. 821-834 , 2017
Link:
https://doi.org/10.1007/..
1-15