Mohsen Karbasiyan

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.

D. Horn, H. Hennies, K. Chrzanowska, 2004, American journal of human genetics.

Comparison of the Performance of QF-PCR with QPCR as A Rapid Molecular-Based Method for Sex Chromosome Aneuploidies Detection

H. Neitzel, R. Varon, V. Dutrannoy, 2014 .

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B

K. Bushby, H. Lassmann, R. Bashir, 1999, Nature Genetics.

Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia.

H. Urbach, T. Klockgether, A. Semmler, 2007, Birth defects research. Part A, Clinical and molecular teratology.

Spectrum of mutations and genotype–phenotype analysis in Currarino syndrome

J. Köchling, A. Reis, Mohsen Karbasiyan, 2001, European Journal of Human Genetics.

Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

D. Seelow, M. Schuelke, B. Lucke, 2010, PLoS genetics.

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

M. Tekin, M. Krawczak, M. Nothnagel, 2016, PloS one.

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

E. Derivery, A. Gautreau, K. Sperling, 2011, Human molecular genetics.

QF-PCR as a molecular-based method for autosomal aneuploidies detection

H. Neitzel, R. Varon, D. El-kaffash, 2013 .

Epigenetic Clock and Relative Telomere Length Represent Largely Different Aspects of Aging in the Berlin Aging Study II (BASE-II)

E. Steinhagen-Thiessen, W. Hopfenmüller, I. Demuth, 2018, The journals of gerontology. Series A, Biological sciences and medical sciences.

Fcγ-Receptor IIIA Polymorphism p.158F Has No Negative Predictive Impact on Rituximab Therapy with and without Sequential Chemotherapy in CD20-Positive Posttransplant Lymphoproliferative Disorder

B. Gärtner, P. Reinke, M. Gandhi, 2014, Journal of immunology research.

Genetic deafness in a preterm infant with a critical postnatal course

M. Schuelke, R. Varon, E. Walch, 2006, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.