Publications by authors named "Kristin Hofmann"

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Biallelic SEMA3A defects cause a novel type of syndromic short stature.
Kristin Hofmann, Markus Zweier, Heinrich Sticht, Christiane Zweier, Wolfgang Wittmann

Am J Med Genet A· November 2013

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7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).
Kristin Hofmann, Jutta Becker, Raoul Heller, Odile Boute, Joris Andrieux

Eur J Med Genet· December 2011

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A de novo 7.6Mb 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, Juliane Hoyer, Kristin Hofmann

Eur J Med Genet· October 2008

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