Suchergebnisse - "Bayram, Yavuz"

PubPharm (60)

1

Comprehensive Gene Panel Testing for Hearing Loss in Children : Understanding Factors Influencing Diagnostic Yield

enthalten in: The Journal of pediatrics | 2023

von Yamamoto, N. | Balciuniene, J. | Hartman, T. | +24

2

The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits

enthalten in: bioRxiv.org | 2023

von Coban-Akdemir, Z. | Song, X. | Ceballos, F. | +20

3

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants : A study in 42 affected individuals

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Saida, K. | Maroofian, R. | Sengoku, T. | +84

4

Developmental genomics of limb malformations : Allelic series in association with gene dosage effects contribute to the clinical variability

enthalten in: HGG advances | 2022

von Duan, R. | Hijazi, H. | Gulec, E. | +27

5

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

enthalten in: Brain : a journal of neurology | 2022

von Scala, M. | Nishikawa, M. | Ito, H. | +96

6

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome

enthalten in: Human mutation | 2022

von Lima, A. | Ferreira, B. | Zhang, C. | +46

7

Centers for Mendelian Genomics : A decade of facilitating gene discovery

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2022

von Baxter, S. | Posey, J. | Lake, N. | +125

8

Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

enthalten in: Human mutation | 2022

von Lima, A. | Ferreira, B. | Zhang, C. | +46

9

Back Cover, Volume 43, Issue 7

enthalten in: Human mutation | 2022

von Lima, A. | Ferreira, B. | Zhang, C. | +46

10

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

enthalten in: American journal of human genetics | 2021

von Mitani, T. | Isikay, S. | Gezdirici, A. | +47

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