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Turkyilmaz, Ayberk
52  results:
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1

Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeg..:

Yilmaz, Mustafa ; Bebek, Ogun ; Colak, Yavuzhan.
Familial Cancer.  , 2024
Link: https://doi.org/10.1007/..
 
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2

Expanding the clinical and genetic landscape of (developmen..:

Türkyılmaz, Ayberk ; Sağer, Safiye Güneş ; Tekin, Emine...
neurogenetics.  , 2024
Link: https://doi.org/10.1007/..
 
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3

Secondary findings in genes related to cancer phenotypes in..:

Demir, Oguzhan ; Saglam, Kubra Adanur ; Yilmaz, Mustafa...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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4

The first Turkish family with a novel biallelic missense va..:

Yılmaz, Mustafa ; Kamaşak, Tülay ; Teralı, Kerem..
American Journal of Medical Genetics Part A.  194 (2024)  5 - p. , 2024
Link: https://doi.org/10.1002/..
 
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5

Natural history of ENPP1 deficiency: Nationwide Turkish Coh..:

Dursun, Fatma ; Turan, İhsan ; Bitkin, Eda Çelebi...
Clinical Endocrinology.  , 2024
Link: https://doi.org/10.1111/..
 
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6

Frequency of Familial Mediterranean Fever Gene Mutation in ..:

Gullu, Ufuk U ; Balaban, İsmail ; Kara, Soner Sertan...
Cureus.  , 2023
Link: https://doi.org/10.7759/..
 
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7

Identification of novel variants in Turkish families with n..:

Türkyılmaz, Ayberk ; Kaplan, Ayşin Tuba ; Öskan Yalçın, Sibel..
International Ophthalmology.  43 (2023)  12 - p. 4573-4583 , 2023
Link: https://doi.org/10.1007/..
 
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8

Lunapark deficiency leads to an autosomal recessive neurode..:

Accogli, Andrea ; Zaki, Maha S ; Al-Owain, Mohammed...
Brain Communications.  , 2023
Link: https://doi.org/10.1093/..
 
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9

Evaluation of long-term neurocognitive functions in patient..:

Sager, Gunes ; Takis, Gulnur ; Vatansever Pinar, Zeynep...
Neurophysiologie Clinique.  53 (2023)  1 - p. 102861 , 2023
Link: https://doi.org/10.1016/..
 
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10

Expanding the clinical and immunological phenotypes of PAX1..:

Yakici, Nalan ; Kreins, Alexandra Y. ; Catak, Mehmet Cihangir...
Clinical Immunology.  255 (2023)  - p. 109757 , 2023
Link: https://doi.org/10.1016/..
 
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11

Corrigendum to "Expanding the clinical and immunological ph..:

Yakici, Nalan ; Kreins, Alexandra Y. ; Catak, Mehmet Cihangir...
Clinical Immunology.  256 (2023)  - p. 109799 , 2023
Link: https://doi.org/10.1016/..
 
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12

Prediction of molecular phenotypes for novel SCN1A variants..:

Teralı, Kerem ; Türkyılmaz, Ayberk ; Sağer, Safiye Güneş.
Clinical and Translational Science.  17 (2023)  1 - p. , 2023
Link: https://doi.org/10.1111/..
 
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13

Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency caus..:

Sager, Gunes ; Türkyilmaz, Ayberk ; Günbey, Hediye Pınar...
European Journal of Paediatric Neurology.  44 (2023)  - p. 51-56 , 2023
Link: https://doi.org/10.1016/..
 
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14

A novel de novo TET3 loss-of-function variant in a Turkish ..:

Sager, Safiye Gunes ; Turkyilmaz, Ayberk ; Gunbey, Hediye Pınar...
Brain and Development.  45 (2023)  2 - p. 140-145 , 2023
Link: https://doi.org/10.1016/..
 
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15

Evaluation of optical coherence tomography findings and vis..:

Kaplan, Aysin Tuba ; Oskan Yalcin, Sibel ; Sager, Safiye Gunes..
International Ophthalmology.  43 (2022)  1 - p. 333-341 , 2022
Link: https://doi.org/10.1007/..
 
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