Showing results (1-10 of 301) with videos related to
Sort By:
Pageof 31
Clinical Genetics|September 7, 2013
Pathogenic variants in non-protein-coding sequencesP Makrythanasis, S E AntonarakisMolecular Syndromology|January 8, 2013
High-throughput sequencing and rare genetic diseasesP Makrythanasis, S E AntonarakisEuropean Journal of Medical Genetics|October 12, 2010
A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopiaS Gimelli, P Makrythanasis, C Stouder, et al.Clinical Genetics|March 19, 2010
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic featuresP Makrythanasis, I Moix, S Gimelli, et al.Dialogues in Clinical Neuroscience|October 29, 2011
The search for allelic variants that cause monogenic disorders or predispose to common, complex polygenic phenotypesS E AntonarakisTrends in Genetics : TIG|April 1, 1993
Human chromosome 21: genome mapping and exploration, circa 1993S E AntonarakisThe New England Journal of Medicine|January 19, 1989
Diagnosis of genetic disorders at the DNA levelS E AntonarakisThe New England Journal of Medicine|March 28, 1991
Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative GroupS E AntonarakisThrombosis and Haemostasis|July 1, 1995
Molecular genetics of coagulation factor VIII gene and hemophilia AS E AntonarakisPageof 31