E-LIB Suche - Ergebnisse für: Kalayci, Tugba

1

Clinical and molecular characteristics of 26 fetuses with l..:

Turgut, Gozde Tutku ; Altunoglu, Umut ; Gulec, Cagri...
Clinical Genetics. 105 (2024) 6 - p. 596-610 , 2024

2

#1442 Retrospective evaluation of etiology, clinical and la..:

Yilmaz, Aysenur ; Suleymanova, Vafa ; Dirim, Ahmet Burak...
Nephrology Dialysis Transplantation. 39 (2024) Supplement_1 - p. , 2024

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

3

SEVERE CONGENİTAL NEUTROPENİA WİTH GLUCOSE-6-PHOSPHATASE CA..:

CATMA, Yunus ; Sakci, Elif ; Kalayci, Tugba.
Hematology, Transfusion and Cell Therapy. 46 (2024) - p. 24 , 2024

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

4

Revisiting TOP2B‐related phenotypes: Three new cases and li..:

Çepni, Ece ; Börklü, Esra ; Avcı, Şahin...
Clinical Genetics. 104 (2023) 2 - p. 251-258 , 2023

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

5

Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels..:

Theil, Arjan F ; Pines, Alex ; Kalayci, Tuğba...
EMBO Molecular Medicine. 15 (2023) 11 - p. , 2023

Link: https://doi.org/10.15252..

6

Late diagnosis of a rare multisystemic genetic disorder: Tr..:

Dirim, Ahmet Burak ; Kalayci, Tugba ; Safak, Seda...
Nephrology. 29 (2023) 1 - p. 55-56 , 2023

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

7

FREM2-related Fraser syndrome with popliteal pterygium and ..:

Turgut, Gozde Tutku ; Sarac Sivrikoz, Tugba ; Komurcu-Bayrak, Evrim.
European Journal of Medical Genetics. 66 (2023) 3 - p. 104712 , 2023

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

8

Nance-Horan Syndrome: characterization of dental, clinical ..:

Guven, Yeliz ; Saracoglu, Hilal Piril ; Aksakal, Sermin Dicle...
BMC Oral Health. 23 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

9

Prenatal ultrasonographic features in Blomstrand osteochond..:

Sarac Sivrikoz, Tugba ; Kalayci, Tugba ; Senturk, Leyli...
Prenatal Diagnosis. 42 (2022) 12 - p. 1503-1510 , 2022

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

10

Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Poly..:

Turgut, G. Tutku ; Kalelioglu, Ibrahim Halil ; Karaman, Volkan...
Molecular Syndromology. 14 (2022) 2 - p. 152-157 , 2022

Link: https://doi.org/10.1159/..

11

A new enrichment approach for candidate gene detection in u..:

Berkay, Ezgi Gizem ; Şoroğlu, Can Veysel ; Kalaycı, Tuğba...
Molecular Genetics and Genomics. 298 (2022) 1 - p. 253-272 , 2022

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

12

Mutations in SCNM1 cause orofaciodigital syndrome due to mi..:

Iturrate, Asier ; Rivera-Barahona, Ana ; Flores, Carmen-Lisset...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1828-1849 , 2022

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

13

Heme oxygenase-1 deficiency as an extremely rare cause of A..:

Dirim, Ahmet Burak ; Kalayci, Tugba ; Safak, Seda...
Clinical Rheumatology. 42 (2022) 2 - p. 597-606 , 2022

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

14

Fetal skeletal dysplasia cohort of a single tertiary referr..:

Kalayci, Tugba ; Altunoglu, Umut ; Çorbacioglu Esmer, Aytul...
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 498-509 , 2022

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

15

Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of..:

Basaran, Seher ; Has, Recep ; Kalelioglu, Ibrahim Halil...
Genes. 13 (2022) 12 - p. 2389 , 2022

Link: https://doi.org/10.3390/..