Ausgabe 1/2023
Inhalt (6 Artikel)
Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL – experience from Slovakia
M. Juhosová, J. Chandoga, F. Cisárik, S. Dallemule, P. Ďurina, D. Jarásková, P. Jungová, D. Kantarská, M. Kvasnicová, M. Mistrík, A. Pastoráková, R. Petrovič, A. Valachová, H. Zelinková, J. Barošová, D. Böhmer, J. Štofko
Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients
Miral M. Refeat, Walaa El Naggar, Mostafa M. El Saied, Ayman Kilany
Structural variation and eQTL analysis in two experimental populations of chickens divergently selected for feather-pecking behavior
Clemens Falker-Gieske, Jörn Bennewitz, Jens Tetens
Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India
Saraswati Nashi, Kiran Polavarapu, Mainak Bardhan, Ram Murthy Anjanappa, Veeramani Preethish-Kumar, Seena Vengalil, Hansashree Padmanabha, Thenral S. Geetha, P. V. Prathyusha, Vedam Ramprasad, Aditi Joshi, Tanushree Chawla, Gopikirshnan Unnikrishnan, Pooja Sharma, Akshata Huddar, Bharathram Uppilli, Abel Thomas, Dipti Baskar, Susi Mathew, Deepak Menon, Gautham Arunachal, Mohammed Faruq, Kumarasamy Thangaraj, Atchayaram Nalini
A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia
Misbahuddin M. Rafeeq, Muhammad Umair, Muhammad Bilal, Alaa Hamed Habib, Ahmed Waqas, Ziaullah M. Sain, Mohammad Zubair Alam, Raja Hussain Ali
Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia
Tal Gilboa, Naama Elefant, Vardiella Meiner, Nuphar Hacohen