Makale detayı · 2021
High Prevalence of Multilocus Pathogenic Variation in Neurodevelopmental Disorders in the Turkish Population
YÖKSİS
OpenAlex
Açık erişim · bronze
SJR Q1
JCR Q1
Atıf 107
Üst %1
Yüzdelik 99.0%
FWCI 11.33
- Yıl
- 2021
- Tür
- article
Veri kaynağı ayrımı
- YÖKSİS YÖKSİS makale kaydı
- YÖKSİS dergi adı American Journal of Human Genetics
- Katalog eşleşmesi (ISSN) American Journal of Human Genetics
- OpenAlex OpenAlex zenginleştirmesi (özet, atıf, konular)
Özet
Özet henüz derlenmedi; DergiPark / OpenAlex kuyruğu işlenince burada görünecek.
Konular
Atıflar
OpenAlex cited_by_count. WoS veya Scopus atıf sayısı değildir; o kaynaklar için ayrı kolon yoktur.
107 atıf
OpenAlex cited_by_count (önbellek / veritabanı)
Yerel katalogda bu makaleye atıf yapan 23 yayın (OpenAlex referans eşleşmesi; tam dünya listesi değildir).
- Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage 2023
- Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability 2022
- Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability 2022
- Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome 2022
- Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature 2023
- Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature 2022
- The impact of the Turkish population variome on the genomic architecture of rare disease traits 2024
- HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data 2023
- Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation 2025
- Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring 2024