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Journal of Medical Genetics|November 6, 2012
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndromeAudrey Putoux, Sheela Nampoothiri, Nicole Laurent, et al.Human Genetics|May 11, 2005
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defectsKristen L Deak, Abee L Boyles, Heather C Etchevers, et al.American Journal of Human Genetics|December 13, 2006
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeLekbir Baala, Stephane Romano, Rana Khaddour, et al.European Journal of Human Genetics : EJHG|March 17, 2005
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndromeDamien Sanlaville, David Genevieve, Céline Bernardin, et al.Human Mutation|February 24, 2009
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndromeLoïc de Pontual, Yves Mathieu, Christelle Golzio, et al.Journal of Neuro-Oncology|January 12, 2013
A very rare cancer in Down syndrome: medulloblastoma. Epidemiological data from 13 countriesDaniel Satgé, Charles A Stiller, Stefan Rutkowski, et al.American Journal of Medical Genetics. Part A|April 23, 2018
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomaliesCaroline Alby, Lucile Boutaud, Bettina Bessières, et al.Birth Defects Research|December 2, 2017
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetusesCaroline Alby, Lucile Boutaud, Maryse Bonnière, et al.American Journal of Human Genetics|August 14, 2012
TCTN3 mutations cause Mohr-Majewski syndromeSophie Thomas, Marine Legendre, Sophie Saunier, et al.Gastroenterology|December 14, 2011
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndromeChristine S Van Der Werf, Tara D Wabbersen, Nai-Hua Hsiao, et al.Pageof 10