Clarisse Baumann

Ontology type: schema:Person     

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Publications in SciGraph latest 50 shown

  • 2019-04 Duplication of 10q24 locus: broadening the clinical and radiological spectrum in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-01 Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-08 Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-08 Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum in JOURNAL OF HUMAN GENETICS
  • 2015-10 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-01 New insights into genotype–phenotype correlation for GLI3 mutations in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-05 Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-03 A large-scale mutation search reveals genetic heterogeneity in 3M syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007-04 Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases in EUROPEAN JOURNAL OF PEDIATRICS
  • 2006-10 High Proportion of Pituitary Abnormalities and Other Congenital Defects in Children with Congenital Nasal Pyriform Aperture Stenosis in PEDIATRIC RESEARCH
  • 2006-08 A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-03 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome in NATURE GENETICS
  • 2005-05 Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2005-04 Combination of WAGR and Potocki–Shaffer contiguous deletion syndromes in a patient with an 11p11.2–p14 deletion in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2005-02 Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2004-06 Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation in EUROPEAN JOURNAL OF PEDIATRICS
  • 2003-12 Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome) in EUROPEAN JOURNAL OF PEDIATRICS
  • 2003-06 CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2002-08 SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism in HUMAN GENETICS
  • 1998-01 Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex in SKELETAL RADIOLOGY
  • 1994-11 Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays in JOURNAL OF INHERITED METABOLIC DISEASE
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