Old Web
English
Sign In
Acemap
>
authorDetail
>
Yeşerin Yıldırım
Yeşerin Yıldırım
Boğaziçi University
Genetics
Biology
Dominance (genetics)
Gene
Phenotype
5
Papers
89
Citations
0.00
KQI
Citation Trend
Filter By
Interval:
1900~2024
1900
2024
Author
Papers (5)
Sort By
Default
Most Recent
Most Early
Most Citation
No data
Journal
Conference
Others
Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
2018
European Journal of Human Genetics
Yeşerin Yıldırım
Toufik Ouriachi
Ute Woehlbier
Wahiba Ouahioune
Mahmut Balkan
Sajid Malik
Aslıhan Tolun
Show All
Source
Cite
Save
Citations (3)
A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family.
2014
European Journal of Human Genetics
Yeşerin Yıldırım
Metin Kerem
Çiğdem Köroğlu
Aslıhan Tolun
Show All
Source
Cite
Save
Citations (10)
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2
2011
American Journal of Medical Genetics Part A
Yeşerin Yıldırım
Aslıhan Tolun
Beyhan Tüysüz
Show All
Source
Cite
Save
Citations (33)
Response to Kouwenberg et al. “Recognizable Phenotype With Common Occurrence of Microcephaly, Psychomotor Retardation, But No Spontaneous Bone Fractures in ARCL2B Due to PYCR1 Mutations”
2011
American Journal of Medical Genetics Part A
Beyhan Tüysüz
Aslıhan Tolun
Yeşerin Yıldırım
Show All
Source
Cite
Save
Citations (0)
A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures
2011
Human Molecular Genetics
Yeşerin Yıldırım
Elif Kocasoy Orhan
Sibel Aylin Ugur Iseri
Piraye Serdaroglu-Oflazer
Bülent Kara
Seyhun Solakoglu
Aslıhan Tolun
Show All
Source
Cite
Save
Citations (43)
1