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European Journal of Medical Genetics|March 23, 2011
Written information to patients in clinical genetics: what's the impact?C Cassini, C Thauvin-Robinet, S Vinault, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|April 30, 2021
Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutationsM Theiler, L Weibel, S Christen-Zaech, et al.
Journal of Medical Genetics|October 4, 2002
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1C Thauvin-Robinet, V El Ghouzzi, W Chemaitilly, et al.
American Journal of Medical Genetics. Part A|November 25, 2024
De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic CounselingC Racine, P Callier, R Touraine, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|May 11, 2010
[Genetic testing in asymptomatic minors: a survey among French geneticists]L Joly, C Thauvin-Robinet, F Huet, et al.
American Journal of Medical Genetics. Part A|July 17, 2008
Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndromeP Callier, L Faivre, C Thauvin-Robinet, et al.
European Journal of Medical Genetics|August 28, 2007
Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)P Callier, L Faivre, N Marle, et al.
European Journal of Medical Genetics|November 26, 2008
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndromeAgnès Atale, Patrizia Bonneau-Amati, Agnès Rötig, et al.
Clinical Genetics|February 17, 2018
INTU-related oral-facial-digital syndrome type VI: A confirmatory reportA-L Bruel, J Levy, N Elenga, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|February 4, 2018
[Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases]L Demougeot, F Houdayer, A Pélissier, et al.
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