Kristin Hofmann

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

M.F. Bedeschi, Lorenzo Colombo, Francesca Mari et al. · Molecular Syndromology · 2010 · 38 citations · Full text

Peculiar Minor Anomalies, Developmental Anomaly, Thumb Hypoplasia +15

Bimodal bilingual language development of hearing children of deaf parents

Kristin Hofmann, Solveig Chilla · European Journal of Special Needs Education · 2014 · 23 citations

A de novo 7.6 Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay

Christian T. Thiel, Helmuth‐Günther Dörr, Udo Trautmann et al. · European Journal of Medical Genetics · 2008 · 19 citations

7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B)

Kristin Hofmann, Jutta Becker, Raoul Heller et al. · European Journal of Medical Genetics · 2011 · 16 citations

Genetics, Hematology, Pathology +2

Biallelic <i>SEMA3A</i> defects cause a novel type of syndromic short stature

Kristin Hofmann, Markus Zweier, Heinrich Sticht et al. · American Journal of Medical Genetics Part A · 2013 · 11 citations