E-LIB Suche - Ergebnisse für: Kosukcu, Can

1

Implication of transcription factor FOXD2 dysfunction in sy..:

Riedhammer, Korbinian M. ; Nguyen, Thanh-Minh T. ; Koşukcu, Can...
Kidney International. 105 (2024) 4 - p. 844-864 , 2024

Link: https://doi.org/10.1016/..

2

Exploring metabolic alterations in PYCR2 deficiency: Unveil..:

Gürbüz, Berrak Bilginer ; Gülbakan, Basri ; Özgül, Rıza Köksal...
American Journal of Medical Genetics Part A. , 2024

Link: https://doi.org/10.1002/..

3

A novel homozygous missense variant in TBC1D31 in a consang..:

Saygılı, Seha ; Koşukcu, Can ; Baştuğ, Turgut...
Clinical Genetics. 104 (2023) 6 - p. 679-685 , 2023

Link: https://doi.org/10.1111/..

4

New cases of recently described Thauvin‐Robinet‐Faivre synd..:

Kılıç, Esra ; Koşukcu, Can
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

Link: https://doi.org/10.1002/..

5

Comparing the melissopalynological and next generation sequ..:

Özkök, Aslı ; Akel Bilgiç, Hayriye ; Kosukcu, Can...
Food Control. 148 (2023) - p. 109630 , 2023

Link: https://doi.org/10.1016/..

6

Homozygous Missense Epithelial Cell Adhesion Molecule Varia..:

Güvenoğlu, Merve ; Şimşek-Kiper, Pelin Özlem ; Koşukcu, Can...
Pediatric Gastroenterology, Hepatology & Nutrition. 25 (2022) 6 - p. 441 , 2022

Link: https://doi.org/10.5223/..

7

Further expanding the mutational spectrum of brain abnormal..:

Kındış, Erdem ; Simsek‐Kiper, Pelin Özlem ; Koşukcu, Can...
American Journal of Medical Genetics Part A. 185 (2021) 6 - p. 1888-1896 , 2021

Link: https://doi.org/10.1002/..

8

Homozygous missense VPS16 variant is associated with a nove..:

Yıldız, Yılmaz ; Koşukcu, Can ; Aygün, Damla...
Clinical Genetics. 100 (2021) 3 - p. 308-317 , 2021

Link: https://doi.org/10.1111/..

9

One Disease with two Faces: Semidominant Inheritance of a N..:

Bekircan-Kurt, Can Ebru ; Çetinkaya, Arda ; Gocmen, Rahsan...
Journal of Stroke and Cerebrovascular Diseases. 30 (2021) 9 - p. 105997 , 2021

Link: https://doi.org/10.1016/..

10

Investigation of Genetic Causes in a Developmental Disorder..:

Güleray, Naz ; Koşukcu, Can ; Oğuz, Sümeyra...
The Cleft Palate-Craniofacial Journal. 59 (2021) 9 - p. 1114-1124 , 2021

Link: https://doi.org/10.1177/..

11

Biallelic mutations in ELFN1 gene associated with developme..:

Dursun, Ali ; Yalnizoglu, Dilek ; Yilmaz, Didem Yucel...
European Journal of Medical Genetics. 64 (2021) 11 - p. 104340 , 2021

Link: https://doi.org/10.1016/..

12

Lymphocyte Subgroups and KREC Numbers in Common Variable Im..:

Yaz, Ismail ; Ozbek, Begum ; Ng, Yuk Yin...
Journal of Clinical Immunology. 40 (2020) 3 - p. 494-502 , 2020

Link: https://doi.org/10.1007/..

13

Whole exome sequencing in unclassified autoinflammatory dis..:

Kosukcu, Can ; Taskiran, Ekim Z ; Batu, Ezgi Deniz...
Rheumatology. 60 (2020) 2 - p. 607-616 , 2020

Link: https://doi.org/10.1093/..

14

Hyperphosphatasia with mental retardation syndrome type 4 I..:

Akgün Doğan, Özlem ; Demir, Gizem Ürel ; Kosukcu, Can...
European Journal of Medical Genetics. 62 (2019) 6 - p. 103535 , 2019

Link: https://doi.org/10.1016/..

15

A novel NKX3-2 mutation associated with perinatal lethal ph..:

Simsek-Kiper, Pelin Ozlem ; Kosukcu, Can ; Akgun-Dogan, Ozlem...
European Journal of Medical Genetics. 62 (2019) 1 - p. 21-26 , 2019

Link: https://doi.org/10.1016/..