Artykuły udostępnione publicznie: - Nurten A AkarsuWięcej informacji
Dostępne w jakimś miejscu: 19
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta
Y Alanay, H Avaygan, N Camacho, GE Utine, K Boduroglu, D Aktas, ...
The American Journal of Human Genetics 86 (4), 551-559, 2010
Upoważnienia: US National Institutes of Health
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
A Putoux, S Thomas, KLM Coene, EE Davis, Y Alanay, G Ogur, E Uz, ...
Nature genetics 43 (6), 601-606, 2011
Upoważnienia: US National Institutes of Health
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish
PV Asharani, K Keupp, O Semler, W Wang, Y Li, H Thiele, G Yigit, E Pohl, ...
The American Journal of Human Genetics 90 (4), 661-674, 2012
Upoważnienia: US National Institutes of Health
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features
R Carapito, M Konantz, C Paillard, Z Miao, A Pichot, MS Leduc, Y Yang, ...
The Journal of clinical investigation 127 (11), 4090-4103, 2017
Upoważnienia: Swiss National Science Foundation, US National Institutes of Health …
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome
E Kalay, O Sezgin, V Chellappa, M Mutlu, H Morsy, H Kayserili, E Kreiger, ...
The American Journal of Human Genetics 90 (1), 76-85, 2012
Upoważnienia: US National Institutes of Health
Defining mitochondrial protein functions through deep multiomic profiling
JW Rensvold, E Shishkova, Y Sverchkov, IJ Miller, A Cetinkaya, A Pyle, ...
Nature 606 (7913), 382-388, 2022
Upoważnienia: US National Institutes of Health, UK Medical Research Council, National …
Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients
H Hashem, G Bucciol, S Ozen, S Unal, IO Bozkaya, N Akarsu, M Taskinen, ...
Journal of clinical immunology 41, 1633-1647, 2021
Upoważnienia: US National Institutes of Health, Research Foundation (Flanders), Wellcome …
Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association
CS Yee, MJ Massaad, W Bainter, TK Ohsumi, N Föger, AC Chan, ...
Journal of Allergy and Clinical Immunology 137 (3), 879-888. e2, 2016
Upoważnienia: US National Institutes of Health, German Research Foundation
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1
A Seo, O Steinberg-Shemer, S Unal, S Casadei, T Walsh, F Gumruk, ...
Proceedings of the National Academy of Sciences 115 (20), 5241-5246, 2018
Upoważnienia: US National Institutes of Health
Loss-of-function mutations in ELMO2 cause intraosseous vascular malformation by impeding RAC1 signaling
A Cetinkaya, JR Xiong, İ Vargel, K Kösemehmetoğlu, Hİ Canter, ...
The American Journal of Human Genetics 99 (2), 299-317, 2016
Upoważnienia: A*Star, Singapore
CRIM1 haploinsufficiency causes defects in eye development in human and mouse
F Beleggia, Y Li, J Fan, NH Elcioğlu, E Toker, T Wieland, IH Maumenee, ...
Human molecular genetics 24 (8), 2267-2273, 2015
Upoważnienia: Wellcome Trust
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type
S Malik, FE Percin, D Bornholdt, B Albrecht, A Percesepe, MC Koch, ...
The American Journal of Human Genetics 95 (6), 649-659, 2014
Upoważnienia: German Research Foundation
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia
MF O’Donohue, L Da Costa, M Lezzerini, S Unal, C Joret, M Bartels, ...
Blood, The Journal of the American Society of Hematology 139 (21), 3111-3126, 2022
Upoważnienia: National Fund for Scientific Research, Belgium, Research Foundation …
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair
D Aktas, EG Utine, K Mrasek, A Weise, F von Eggeling, K Yalaz, ...
Molecular Cytogenetics 3, 1-7, 2010
Upoważnienia: German Research Foundation
Expanding the phenotypic spectrum of ECEL1‐related congenital contracture syndromes
S Shaaban, F Duzcan, C Yildirim, WM Chan, C Andrews, NA Akarsu, ...
Clinical genetics 85 (6), 562-567, 2014
Upoważnienia: US National Institutes of Health, Howard Hughes Medical Institute
Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation
AT Mansur, NH Elcioglu, S Redler, ZA Serdar, S Cetinel, RC Betz, ...
American Journal of Medical Genetics Part A 152 (10), 2628-2633, 2010
Upoważnienia: German Research Foundation
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
HH Wong, SH Seet, M Maier, A Gurel, RM Traspas, C Lee, S Zhang, ...
The American Journal of Human Genetics 108 (7), 1301-1317, 2021
Upoważnienia: US National Institutes of Health, Howard Hughes Medical Institute, National …
Correction to: Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients
H Hashem, G Bucciol, S Ozen, S Unal, IO Bozkaya, N Akarsu, M Taskinen, ...
Journal of clinical immunology 42 (7), 1580-1581, 2022
Upoważnienia: US National Institutes of Health
Arda Cetinkaya, Jingwei Rachel Xiong, 2, 15 Ibrahim Vargel, 3 Kemal Kösemehmetoglu, 4 Halil Ibrahim Canter, 5 Omer Faruk Gerdan, 6 Nicola Longo, 7 Ahmad Alzahrani, 8 Mireia …
T Takahashi, B Reversade, NA Akarsu
The American Journal of Human Genetics 99, 299-317, 2016
Upoważnienia: A*Star, Singapore
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