E-LIB Suche - Ergebnisse für: Simsek-Kiper, Pelin Ozlem

1

A spectrum of TP63-related disorders with eight affected in..:

Soğukpınar, Merve ; Utine, Gülen Eda ; Boduroğlu, Koray.
European Journal of Medical Genetics. 68 (2024) - p. 104911 , 2024

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

2

Review of patients with achondroplasia: a single-center's e..:

Soğukpınar, Merve ; Demir, Gizem Ürel ; Utine, Gülen Eda...
European Journal of Pediatrics. , 2024

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

3

Correction to: Review of patients with achondroplasia: a si..:

Soğukpınar, Merve ; Demir, Gizem Ürel ; Utine, Gülen Eda...
European Journal of Pediatrics. , 2024

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

4

P-40 A rare cause of male infertility: 46, XX testicular di..:

Erturk, Banu ; Altan, Mesut ; Simsek-Kiper, Pelin Ozlem..
JCEM Case Reports. 2 (2024) Supplement_1 - p. , 2024

Link: https://doi.org/10.1210/..

5

Editorial: Advancing our understanding of the genetic and f..:

Guo, Long ; Qiang, Rong ; Zhang, Yi.
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

6

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand ..:

Akalın, Akçahan ; Özşin, Cansu ; Koç, Nagihan...
European Journal of Medical Genetics. 66 (2023) 4 - p. 104708 , 2023

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

7

Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to..:

Kahraman, Ayca Burcu ; Karakaya, Bekir ; Yıldız, Yılmaz...
Neuromuscular Disorders. 32 (2022) 11-12 - p. 931-934 , 2022

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

8

HEATR3 variants impair nuclear import of uL18 (RPL5) and dr..:

O'Donohue, Marie-Françoise ; Da Costa, Lydie ; Lezzerini, Marco...
Blood. 139 (2022) 21 - p. 3111-3126 , 2022

Link: https://doi.org/10.1182/..

9

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/..

10

A lethal and rare cause of arthrogryposis: Glyt1 encephalop..:

Daşar, Tuğba ; Şimşek-Kiper, Pelin Özlem ; Taşkıran, Ekim Zihni...
European Journal of Medical Genetics. 65 (2022) 12 - p. 104631 , 2022

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

11

Three new cases of Crisponi /cold induced sweating syndrome..:

Kolkiran, Abdulkerim ; Ürel-Demir, Gizem ; Şimşek-Kiper, Pelin Özlem.
European Journal of Medical Genetics. 64 (2021) 7 - p. 104229 , 2021

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

12

Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 ..:

Akgün-Doğan, Özlem ; Simsek-Kiper, Pelin Ozlem ; Taşkıran, Ekim...
Journal of Child Neurology. 36 (2021) 10 - p. 816-822 , 2021

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

13

Natural history of TRPV4-Related disorders: From skeletal d..:

Ürel-Demir, Gizem ; Şimşek-Kiper, Pelin Özlem ; Öncel, İbrahim...
European Journal of Paediatric Neurology. 32 (2021) - p. 46-55 , 2021

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

14

Obstructive sleep apnea in children with Down syndrome: is ..:

Hizal, Mina ; Satırer, Ozlem ; Polat, Sanem Eryilmaz...
European Journal of Pediatrics. 181 (2021) 2 - p. 735-743 , 2021

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

15

The clinical significance of A2ML1 variants in Noonan syndr..:

Brinkmann, Julia ; Lissewski, Christina ; Pinna, Valentina...
European Journal of Human Genetics. 29 (2020) 3 - p. 524-527 , 2020

Link: https://doi.org/10.1038/..