Suchergebnisse - "Şimsek Kiper, Pelin Özlem"

PubPharm (93)

1

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia

enthalten in: American journal of medical genetics. Part A | 2024

von Şimşek-Kiper, P. | Karaosmanoğlu, B. | Taşkıran, E. | +3

2

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families

enthalten in: European journal of medical genetics | 2024

von Soğukpınar, M. | Utine, G. | Boduroğlu, K. | +1

3

A rare skeletal dysplasia in the etiology of severe scoliosis : Diaphanospondylodysostosis

enthalten in: European journal of medical genetics | 2024

von Daşar, T. | Yıldız, A. | Demirkıran, G. | +2

4

Delineation of ADPRHL2 Variants : Report of Two New Patients with Review of the Literature

enthalten in: Neuropediatrics | 2024

von Öz Yıldız, S. | Yalnızoğlu, D. | Şimsek Kiper, P. | +4

5

Evaluation of polysomnography findings in children with genetic skeletal disorders

enthalten in: Journal of sleep research | 2023

von Nayır Büyükşahin, H. | Emiralioglu, N. | Simşek Kiper, P. | +10

6

Cockayne syndrome type 3 with dystonia-ataxia and clicking blinks

enthalten in: Movement disorders clinical practice | 2023

von Gültekin-Zaim, �. | Yalçın-Çakmaklı, G. | Çolpak, A. | +3

7

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders

enthalten in: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 2023

von Batkovskyte, D. | McKenzie, F. | Taylan, F. | +29

8

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type : Further expanding the mutational spectrum and dental findings of three new patients

enthalten in: European journal of medical genetics | 2023

von Akalın, A. | Özşin, C. | Koç, N. | +6

9

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features

enthalten in: American journal of medical genetics. Part A | 2023

von Akalın, A. | Şimşek-Kiper, P. | Taşkıran, E. | +3

10

Neonatal ichthyosis-sclerosing cholangitis syndrome : report of a novel mutation and a review of the literature

enthalten in: Clinical dysmorphology | 2023

von Demir, E. | Tuna Kirsaçlioğlu, C. | Saltik-Temizel, �. | +7

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