Boyan Dimitrov

Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter

Maria Kirchhoff, Anne‐Marie Bisgaard, Radka Stoeva et al. · American Journal of Medical Genetics Part A · 2009 · 175 citations

Gene Deletion Data, Developmental Biology, Array‐cgh Characterization +15

Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

Christiane Zweier, Christian T. Thiel, Andreas Dufke et al. · European Journal of Medical Genetics · 2005 · 135 citations

Genetic Disorder, Genetics, Pathology +4

<i>FGFR1</i> mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Nicolas Simonis, Isabelle Migeotte, Nelle Lambert et al. · Journal of Medical Genetics · 2013 · 95 citations · Full text

The <i>C20orf133</i> gene is disrupted in a patient with Kabuki syndrome

Nicole Maas, Tom Van de Putte, Cindy Melotte et al. · Journal of Medical Genetics · 2007 · 70 citations · Full text

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype

Boyan Dimitrov, Irina Balikova, Thomy de Ravel et al. · Journal of Medical Genetics · 2010 · 67 citations · Full text