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Koparir, Asuman
31  results:
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1

Zebrafish as a model to investigate a biallelic gain-of-fun..:

Koparir, Asuman ; Lekszas, Caroline ; Keseroglu, Kemal...
Human Genomics.  18 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

Unraveling the genetic complexities of combined retinal dys..:

Bahena, Paulina ; Daftarian, Narsis ; Maroofian, Reza...
Human Genetics.  141 (2021)  3-4 - p. 785-803 , 2021
Link: https://doi.org/10.1007/..
 
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3

Revealing the functions of novel mutations in RAB3GAP1 in M..:

Koparir, Asuman ; Karatas, Omer Faruk ; Yilmaz, Seda Salman...
American Journal of Medical Genetics Part A.  179 (2019)  4 - p. 579-587 , 2019
Link: https://doi.org/10.1002/..
 
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4

ASC‐1 Is a Cell Cycle Regulator Associated with Severe and ..:

Villar‐Quiles, Rocío N. ; Catervi, Fabio ; Cabet, Eva...
Annals of Neurology.  87 (2019)  2 - p. 217-232 , 2019
Link: https://doi.org/10.1002/..
 
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5

Revealing the function of a novel splice-site mutation of C..:

Lee, Byeonghyeon ; Duz, Mehmet Bugrahan ; Sagong, Borum...
Gene.  576 (2016)  2 - p. 776-781 , 2016
Link: https://doi.org/10.1016/..
 
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6

Renal involvement in patients with mucolipidosis IIIalpha/b..:

Tüysüz, Beyhan ; Ercan‐Sencicek, Adife Gülhan ; Canpolat, Nur...
American Journal of Medical Genetics Part A.  170 (2016)  5 - p. 1187-1195 , 2016
Link: https://doi.org/10.1002/..
 
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7

NovelPOC1Amutation in primordial dwarfism reveals new insig..:

Koparir, Asuman ; Karatas, Omer F. ; Yuceturk, Betul...
Human Molecular Genetics.  24 (2015)  19 - p. 5378-5387 , 2015
Link: https://doi.org/10.1093/..
 
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8

Novel MASP1 mutations are associated with an expanded pheno..:

Atik, Tahir ; Koparir, Asuman ; Bademci, Guney...
Orphanet Journal of Rare Diseases.  10 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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9

Whole-exome sequencing revealed two novel mutations in Ushe..:

Koparir, Asuman ; Karatas, Omer Faruk ; Atayoglu, Ali Timucin...
Gene.  563 (2015)  2 - p. 215-218 , 2015
Link: https://doi.org/10.1016/..
 
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10

Poikiloderma with neutropenia: Genotype‐ethnic origin corre..:

Koparir, Asuman ; Gezdirici, Alper ; Koparir, Erkan...
American Journal of Medical Genetics Part A.  164 (2014)  10 - p. 2535-2540 , 2014
Link: https://doi.org/10.1002/..
 
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11

Unraveling the genetic complexities of combined retinal dys..:

Bahena, Paulina ; Daftarian, Narsis ; Maroofian, Reza...
https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/26775.  , 2022
Link: https://opus.bibliothek...
 
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12

Unraveling the genetic complexities of combined retinal dys..:

Bahena, Paulina ; Daftarian, Narsis ; Maroofian, Reza...
https://repository.publisso.de/resource/frl:6446836.  , 2021
Link: https://repository.publi..
 
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13

ASC‐1 Is a Cell Cycle Regulator Associated with Severe and ..:

Villar‐quiles, Rocío ; Catervi, Fabio ; Cabet, Eva...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ana.25660.  , 2020
Link: https://hal.science/hal-..
 
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14

ASC-1 Is a Cell Cycle Regulator Associated with Severe and ..:

Villar-Quiles, Rocío Nur ; Catervi, Fabio ; Cabet, Eva...
uri/info:doi/10.1002/ana.25660.  , 2020
Link: http://hdl.handle.net/20..
 
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15

ASC‐1 Is a Cell Cycle Regulator Associated with Severe and ..:

Villar‐quiles, Rocío ; Catervi, Fabio ; Cabet, Eva...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ana.25660.  , 2020
Link: https://hal.science/hal-..
 
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