Bottani, Armand

 
 
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2008

Scientific Articles

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Subtelomeric 6p deletion: clinical and array-CGH characterization in two patientsMartinet, Danielle; Filges, Isabel; Besuchet Schmutz, Nathalie; Morris, Michael Andréw; ... Bena, Frédérique

2007

Scientific Articles

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Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case reportJenny, Benoît John; Radovanovic, Ivan; Haenggeli, Charles-Antoine; Delavelle, Jacqueline; ... Rilliet, Bénédict
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Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female caseHorvath, Judit; Burkhard, Pierre; Morris, Michael Andréw; Bottani, Armand; ... Delavelle, Jacqueline
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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 6q14.1Naveed, Mohammed; Nath, S. K.; Gaines, Mathew; Al-Ali, M. T.; ... Radhakrishna, Uppala
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MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous motherDayer, Alexandre; Bottani, Armand; Bouchardy, Isabelle; Fluss, Joel Victor; ... Morris, Michael Andréw
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Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardationBottani, Armand; Chelly, Jamel; de Brouwer, A. P.; Pardo, Bruno; ... Conrad, Bernard
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Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotypeDayer, Romain Olivier Pierre; Ceroni, Dimitri; Bottani, Armand; Kaelin, André;
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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 FGD1Bottani, Armand; Orrico, Alfredo; Galli, Lucia; Karam, Oliver Laurent; ... Conrad, Bernard
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