S. Çağlayan

发表

A Common VWF Exon 28 Haplotype in the Turkish Population

K. Kavaklı, S. H. Çağlayan, E. Berber, 2013, Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis.

An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic–clonic seizures

B. Tatlı, S. Çomu, N. Bebek, 2011, Epilepsia.

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Colin A. Ellis, M. Daly, I. Scheffer, 2020, Brain : a journal of neurology.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Michael R. Johnson, S. Gabriel, M. Daly, 2019, bioRxiv.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Ethan M. Goldberg, Joshua E. Motelow, I. Scheffer, 2021, American journal of human genetics.

Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L.

D. Lillicrap, Z. Başlar, M. Ozbil, 2017, Blood transfusion = Trasfusione del sangue.

Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations

K. Kavaklı, Y. Kilinç, G. Aktuǧlu, 2003, British journal of haematology.

Intron 22 inversions in the Turkish haemophilia A patients: prevalence and haplotype analysis

O. el-Maarri, K. Kavaklı, S. H. Çağlayan, 1999, Haemophilia : the official journal of the World Federation of Hemophilia.

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies including Myoclonic Atonic Epilepsy

H. Mefford, H. Bellen, Shinya Yamamoto, 2021, medRxiv.

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).

P. Nürnberg, J. Altmüller, H. Thiele, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mutations associated with hemophilia B in Turkish patients

S. Sommer, G. Aktuǧlu, A. Gürgey, 1997, Human mutation.

Identification of mutations in four hemophilia B patients of Turkish origin, including a novel deletion of base 6411

G. Aktuǧlu, S. H. Çağlayan, T. Gürsel, 1994, Human mutation.

SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations

B. Kara, N. Bebek, U. Yiş, 2016, Seizure.

Characterization of the genetic basis of FXI deficiency in two Turkish patients

V. Rimoldi, S. Aksu, S. Duga, 2009, Haemophilia : the official journal of the World Federation of Hemophilia.