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Clinical Genetics|December 15, 2015
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilitiesC Thauvin-Robinet, L Duplomb-Jego, F Limoge, et al.American Journal of Medical Genetics. Part A|February 13, 2009
Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplicationA L Mosca, P Callier, L Faivre, et al.Clinical Genetics|April 23, 2016
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesisA-L Bruel, A Masurel-Paulet, J-B Rivière, et al.Clinical Genetics|November 19, 2016
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosisM Lefebvre, Y Duffourd, T Jouan, et al.The British Journal of Dermatology|April 21, 2016
Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevusP Kuentz, S Fraitag, M Gonzales, et al.American Journal of Medical Genetics. Part A|June 9, 2012
Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosisC Thauvin-Robinet, S Drunat, P Saugier Veber, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 5, 2008
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrumC Thauvin-Robinet, E Roze, G Couvreur, et al.Clinical Genetics|January 13, 2016
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic testJ Thevenon, Y Duffourd, A Masurel-Paulet, et al.Clinical Oral Investigations|July 10, 2020
Re-focusing on Agnathia-Otocephaly complexC Dubucs, N Chassaing, C Sergi, et al.JIMD Reports|January 29, 2015
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic MarkersS El Chehadeh, C Bonnet, P Callier, et al.Pageof 6