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European Journal of Medical Genetics|December 25, 2012
Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndromeAnne Schneider, Saskia M Maas, Raoul C M Hennekam, et al.American Journal of Medical Genetics. Part A|August 15, 2006
Patched mutations and hairy skin patches: a new sign in Gorlin syndromeLouise C Wilson, Ekundayo Ajayi-Obe, Birgitta Bernhard, et al.International Journal of Pediatric Otorhinolaryngology|September 19, 2021
The important role of RPS14, RPL5 and MDM2 in TP53-associated ribosome stress in mycophenolic acid-induced microtiaYangyang Lin, Corstiaan C Breugem, Saskia M Maas, et al.American Journal of Medical Genetics. Part A|November 4, 2004
Further delineation of Frank-ter Haar syndromeSaskia M Maas, Hulya Kayserili, Jan Lam, et al.Human Reproduction (Oxford, England)|June 26, 2007
Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch studyMarianne E Doornbos, Saskia M Maas, Joseph McDonnell, et al.Journal of Medical Genetics|March 19, 2013
High rate of mosaicism in individuals with Cornelia de Lange syndromeSylvia A Huisman, Egbert J W Redeker, Saskia M Maas, et al.Journal of Cranio-Maxillo-Facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery|April 8, 2016
Taste and speech following surgical tongue reduction in children with Beckwith-Wiedemann syndromeSaskia M Maas, Daniel J Kadouch, Anne-Claire C M Masselink, et al.American Journal of Medical Genetics. Part A|April 6, 2011
The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?Daniela Q C M Barge-Schaapveld, Saskia M Maas, Abeltje Polstra, et al.Human Mutation|November 22, 2012
Exome sequencing identifies a branch point variant in Aarskog-Scott syndromeEmmelien Aten, Yu Sun, Rowida Almomani, et al.The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|April 26, 2022
Evaluating International Diagnostic, Screening, and Monitoring Practices for Craniofacial Microsomia and Microtia: A Survey StudyElsa M Ronde, Jitske W Nolte, Frea H Kruisinga, et al.Pageof 6