Lies H. Hoefsloot

Distal femoral duplication and fibular agenesis associated with congenital cardiac defect

M. Çakır, A. Okten, Y. Gedik, 2010, Indian journal of pediatrics.

CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects

L. Hoefsloot, C. V. van Ravenswaaij-Arts, G. J. du Marchie Sarvaas, 2014, American journal of medical genetics. Part A.

Histology and synchrotron radiation‐based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome

Rudolf Glueckert, Anneliese Schrott-Fischer, Felix Beckmann, 2010, American journal of medical genetics. Part A.

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome

N. de Leeuw, B. Gener, L. Hoefsloot, 2009, American journal of medical genetics. Part A.

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene

L. Hoefsloot, B. V. van Engelen, B. M. van der Sluijs, 2003, Human mutation.

USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II

C. Cremers, A. Deutman, H. Kremer, 2004, Human mutation.