Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|March 16, 2013
A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndromeMiroslava Hancarova, Martina Simandlova, Jana Drabova, et al.
American Journal of Medical Genetics. Part A|April 27, 2018
Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeresMiroslava Hancarova, Marcela Malikova, Michaela Kotrova, et al.
Molecular Cytogenetics|November 21, 2014
A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplicationsJana Drabova, Marie Trkova, Miroslava Hancarova, et al.
Gene|December 26, 2012
Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15Miroslava Hancarova, Sarka Vejvalkova, Marie Trkova, et al.
Annals of Human Genetics|September 24, 2017
Choledochal Cyst with 17q12 Chromosomal DuplicationRadana Kotalova, Petra Dusatkova, Jana Drabova, et al.
Neuroscience Letters|February 3, 2020
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant foundAnna Uhrova Meszarosova, Pavel Seeman, Jan Jencik, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8Jana Drabova, Eva Seemanova, Miroslava Hancarova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2024
High yield of monogenic short stature in children from Kurdistan, Iraq: A genetic testing algorithm for consanguineous familiesShenali Anne Amaratunga, Tara Hussein Tayeb, Petra Dusatkova, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|June 10, 2014
Monozygotic twins with 17q21.31 microdeletion syndromeMarketa Vlckova, Miroslava Hancarova, Jana Drabova, et al.
New Biotechnology|October 26, 2010
Array comparative genome hybridization in patients with developmental delay: two example casesMiroslava Hancarova, Jana Drabova, Zuzana Zmitkova, et al.
Pageof 2