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Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|April 6, 2013
Proteus syndrome revealing itself after the treatment of a bilateral subdural haematomaYassine El Hassani, Benoit Jenny, Brigitte Pittet-Cuenod, et al.
Prenatal Diagnosis|May 23, 2006
Prenatal diagnostic indicators of paternal uniparental disomy 14Logos Curtis, Eric Antonelli, Yvan Vial, et al.
Brain & Development|July 18, 2006
MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous motherAlexandre G Dayer, Armand Bottani, Isabelle Bouchardy, et al.
Journal of Neurosurgery|October 19, 2007
Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case reportBenoit Jenny, Ivan Radovanovic, Charles-Antoine Haenggeli, et al.
Revue Medicale De La Suisse Romande|April 21, 2004
[How should a muscular disease be studied?]André Kohler, Charles Bader, Laurent Bernheim, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 9, 2009
Alexander disease: early presence of cerebral MRI criteriaClaudia B Poloni, Solène Ferey, Charles-Antoine Haenggeli, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|January 11, 2024
Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiologyVeronika Vaclavik, Aurelie Navarro, Alain Jacot-Guillarmod, et al.
Human Mutation|July 21, 2009
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytesIstván Magyar, Dvora Colman, Eliane Arnold, et al.
Human Mutation|September 12, 2012
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAPCarine Le Goff, Clémentine Mahaut, Armand Bottani, et al.
American Journal of Medical Genetics. Part A|May 12, 2006
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysisMohammed Naveed, Mahmoud T Al-Ali, Sabita K Murthy, et al.
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