Nancy Mizue Kokitsu‐Nakata

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Linlea Armstrong, Azza Abd El Monéim, Kirk Aleck et al. · American Journal of Medical Genetics Part A · 2004 · 102 citations

Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

Christopher T. Gordon, Florence Petit, Peter M. Kroisel et al. · The American Journal of Human Genetics · 2013 · 73 citations · Full text

Endothelin 1, Question-mark Ears, Neuropathology

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Anneke J.A. Kievit, Federico Tessadori, Hannie Douben et al. · European Journal of Human Genetics · 2018 · 69 citations · Full text

Signal Transduction, Cadherin–catenin Complex, Pathology +7

Auriculo‐condylar syndrome: Additional patients

Maria Leine Guion‐Almeida, Roseli Maria Zechi‐Ceide, Siulan Vendramini et al. · American Journal of Medical Genetics · 2002 · 39 citations

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

Vanessa Luiza Romanelli Tavares, Christopher T. Gordon, Roseli Maria Zechi‐Ceide et al. · European Journal of Human Genetics · 2014 · 33 citations · Full text

Auriculocondylar Syndrome Strengthen, Mendelian Disorder, Autoimmune Disease +10