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AMERICAN JOURNAL OF MEDICAL GENETICS PART A

5 yayın · 21 atıf

Yayınlar
Başlık Yıl Yazar Atıf
Familial Presentation of a Rare <i>NCKAP1 </i>Splice-Site Variant Associated With a Neurodevelopmental Disorder and Cutaneous Manifestations
2026 Gundogdu Ogutlu, Ozge Beyza, Demir, Berrin, Utlu, Zeynep +3 0
<i>INTU</i>-related oral-facial-digital syndrome XVII: Clinical spectrum of a rare disorder
2022 Yakar, Omer, Tatar, Abdulgani 6
A new case of Turnpenny-Fry syndrome
2022 Ercoskun, Pelin, Kahraman, Cigdem Yuce, Saglam, Kubra Adanur +2 5
A Novel nonsense variant in the <i>CDH2</i> gene associated with ACOGS: A case report
2022 Kanjee, Momen, Yuce Kahraman, Cigdem, Ercoskun, Pelin +2 5
Witteveen-Kolk syndrome: The first patient from Turkey
2021 Ercoskun, Pelin, Yuce Kahraman, Cigdem 5