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Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) Lalioti, M. D.; Mirotsou, M.; Buresi, C.; Peitsch, M. C.; ... Antonarakis, Stylianos 1997
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Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy Lalioti, M. D.; Scott, Hamish Steele; Buresi, C.; Rossier, Colette; ... Antonarakis, Stylianos 1997
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Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients Fokstuen, Siv; Bottani, Armand; Medeiros, P. F.; Antonarakis, Stylianos; ... Schinzel, A. 1997
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A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset Lalioti, M. D.; Scott, Hamish Steele; Genton, P.; Grid, D.; ... Antonarakis, Stylianos 1998
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MEHMO, a novel syndrome: assignment of disease locus to Xp21.1-p22.13. Mental retardation, epileptic seizures, hypogonadism and genitalism, microcephaly, obesity DeLozier-Blanchet, C; Haenggeli, Charles-Antoine; Bottani, Armand 1999
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Early-onset familial dilatation of the ascending aorta Beghetti, Maurice; Steinmann, Beat; Didier, Dominique; Kalangos, Afksendiyos; Bottani, Armand 1999
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The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations Radhakrishna, U.; Bornholdt, D.; Scott, Hamish Steele; Patel, U. C.; ... Antonarakis, Stylianos 1999
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Proximal myotonic myopathy: clinical, electrophysiological and pathological findings in a family Kohler, André; Burkhard, Pierre; Hefft, S; Bottani, Armand; ... Magistris, Michel 2000
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Early fatal pontocerebellar hypoplasia in premature twin sisters Chaves Vischer, Virginie Isabelle; Pizzolato, Gianpaolo; Hanquinet, Sylviane; Maret, Alexandre; ... Haenggeli, Charles-Antoine 2000
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Comment investiguer une maladie musculaire? Kohler, André; Bader, Charles; Bernheim, Laurent; Bottani, Armand; ... Magistris, M. R. 2003
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Prenatal diagnostic indicators of paternal uniparental disomy 14 Curtis, Logos Simian; Antonelli, Eric; Vial, Yvan; Rimensberger, Peter; ... Fokstuen, Siv 2006
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Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions Howald, C.; Merla, Giuseppe; Digilio, M. C.; Amenta, S.; ... Reymond, Alexandre 2006
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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 analysis Naveed, Mohammed; Al-Ali, M. T.; Murthy, S. K.; Al-Hajali, Sarah; ... Radhakrishna, Uppala 2006
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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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Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype Dayer, Romain Olivier Pierre; Ceroni, Dimitri; Bottani, Armand; Kaelin, André 2007
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Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1 Bottani, Armand; Orrico, Alfredo; Galli, Lucia; Karam, Oliver Laurent; ... Conrad, Bernard 2007
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Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation Bottani, Armand; Chelly, Jamel; de Brouwer, A. P.; Pardo, Bruno; ... Conrad, Bernard 2007
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MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother Dayer, Alexandre; Bottani, Armand; Bouchardy, Isabelle; Fluss, Joel Victor; ... Morris, Michael Andréw 2007
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Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1 Naveed, Mohammed; Nath, S. K.; Gaines, Mathew; Al-Ali, M. T.; ... Radhakrishna, Uppala 2007
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