Karen Br�ndum-Nielsen

Characterization ofATM mutations in 41 Nordic families with Ataxia Telangiectasia

Kirsten Laake, Laila Jansen, Johanne M D Hahnemann et al. · Human Mutation · 2000 · 67 citations

Characterization of a supernumerary small marker X chromosome in two females with similar phenotypes

Zeynep T�mer, Daynna J. Wolff, Asli Silahtaroglu et al. · American Journal of Medical Genetics · 1998 · 56 citations

Cytogenetics, Genetics, Gynecology +21

Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness

Thalia Antoniadi, K. Gr�nskov, Annie Sand et al. · Human Mutation · 2000 · 49 citations

Aspects of skeletal development in fragile X syndrome fetuses

Helle Hjalgrim, Birgit F. Hansen, Karen Br�ndum-Nielsen et al. · American Journal of Medical Genetics · 2000 · 30 citations

Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the ?critical segment? towards the telomere

Maria Anvret, Magnus Nordenskj�ld, Lisa Stolpe et al. · Human Genetics · 1991 · 28 citations

Chromatin, Wolf-hirschhorn Syndrome, Mendelian Disorder +10