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Elçioğlu, Nursel H.
121  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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