Metrikler
Yayın
4
Açık Erişim
1
Makaleler
Tümü (3)
SCI-E, SSCI, AHCI (3)
SCI-E, SSCI, AHCI, ESCI (3)
Scopus (3)
2023
20231. Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia
Cengiz Winter N., Karakaya M., Mosen P., Brusius I., Anlar B., Haliloglu G., et al.
Journal of Proteome Research
, cilt.22, sa.9, ss.3081-3095, 2023 (SCI-Expanded, Scopus)
2020
20202. The genomic and clinical landscape of fetal akinesia
Pergande M., Motameny S., Oezdemir O., Kreutzer M., Wang H., Daimagueler H., et al.
GENETICS IN MEDICINE
, cilt.22, sa.3, ss.511-523, 2020 (SCI-Expanded, Scopus)
2018
20183. Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies
Karakaya M., Storbeck M., Strathmann E. A., Delle Vedove A., Hoelker I., Altmueller J., et al.
HUMAN MUTATION
, cilt.39, sa.9, ss.1284-1298, 2018 (SCI-Expanded, Scopus)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
2016
20161. Neuroimaging signatures of alpha-dystroglycanopathies (ADG): A pictorial review
Ardicli D., GÖÇMEN R., ÇIRAK S., Karakaya M., Haliloglu G., TOPALOĞLU H. A.
21st International Congress of the World-Muscle-Society, Granada, Nikaragua, 4 - 08 Ekim 2016, cilt.26, (Özet Bildiri)