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Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane 2018
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SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy Ranza, Emmanuelle Nathalie; Garcia-Tarodo, Stephanie; Varvagiannis, Konstantinos; Guipponi, Michel; ... Korff, Christian 2017
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Pectus excavatum et carinatum chez l'enfant et l'adolescent : que dire, que faire ? Lascombes, Pierre François Marie; Ruchonnet, Isabelle; Beghetti, Maurice; Bottani, Armand; Wilde, James Carl Henri 2017
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU Korff, Christian; Bottani, Armand 2017
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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos 2016
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Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding? Garcia-Tarodo, S; Bottani, Armand; Merlini, Laura; Kaelin, André; ... Korff, Christian 2015
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Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster Santoni, Federico; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Guipponi, Michel; ... Antonarakis, Stylianos 2014
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Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan 2014
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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline 2013
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Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma El Hassani, Yassine; Jenny, Benoît John; Pittet Cuenod, Brigitte Maud; Bottani, Armand; ... Rilliet, Bénédict 2013
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Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation Calinescu-Tuleasca, Ana Maria; Bottani, Armand; Rougemont-Pidoux, Anne-Laure; Birraux, Jacques Maurice; ... Wildhaber, Barbara 2013
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Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand 2012
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A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia Gimelli, Stefania; Makrythanasis, Periklis; Stouder, Christelle; Antonarakis, Stylianos; ... Sloan Bena, Frédérique 2011
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Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report Antonarakis, Stylianos; Fokstuen, Siv; Engel, Eric; Dermitzakis, Emmanouil; ... Mostafavi, Maryam 2011
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De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features Makrythanasis, Periklis; Moix, Isabelle; Gimelli, Stefania; Fluss, Joel Victor; ... Bottani, Armand 2010
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Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 Lyle, Robert; Bena, Frédérique; Gagos, Sarantis; Gehrig, Corinne; ... Antonarakis, Stylianos 2009
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Alexander disease: early presence of cerebral MRI criteria Poloni, Claudia B.; Ferey, Solene; Haenggeli, Charles-Antoine; Delavelle, Jacqueline; ... Korff, Christian 2009
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Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients Martinet, Danielle; Filges, Isabel; Besuchet Schmutz, Nathalie; Morris, Michael Andréw; ... Bena, Frédérique 2008
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Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case Horvath, Judit; Burkhard, Pierre; Morris, Michael Andréw; Bottani, Armand; ... Delavelle, Jacqueline 2007
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Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report Jenny, Benoît John; Radovanovic, Ivan; Haenggeli, Charles-Antoine; Delavelle, Jacqueline; ... Rilliet, Bénédict 2007
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