Ngā hua rapu - Angela Maria Vianna‐Morgante
- E whakaatu ana i te 1 - 20 hua o te 55
- Haere ki te Whārangi Whai Ake
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As variações do genoma e a diversidade humana mā Angela Maria Vianna‐Morgante, Carla Rosenberg
I whakaputaina 2007Artigo -
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Structure and stability upon maternal transmission of common and intermediate FMR1 (Fragile X Mental Retardation 1) alleles in a sample of the Brazilian population mā Leonardo Pires Capelli, Regina Célia Mingroni‐Netto, Angela Maria Vianna‐Morgante
I whakaputaina 2005Artigo -
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Simple, Rapid and Inexpensive Quantitative Fluorescent PCR Method for Detection of Microdeletion and Microduplication Syndromes mā Martin Stofanko, Higgor Gonçalves‐Dornelas, Pricila S. Cunha, Heloísa B. Pena, Angela Maria Vianna‐Morgante, Sérgio Danilo Junho Pena
I whakaputaina 2013Artigo -
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The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9gene: two novel de novo balanced translocations associated with acampomelic campomelic dyspla... mā Ana Carolina Fonseca, Adriano Bonaldi, Débora Romeo Bertola, Chong Ae Kim, Paulo Alberto Otto, Angela Maria Vianna‐Morgante
I whakaputaina 2013Artigo -
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Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B mā Ana Cristina Victorino Krepischi, Jorge David Aivazoglou Carneiro, Marta Svartman, Israel Bendit, Vicente Odone Filho, Angela Maria Vianna‐Morgante
I whakaputaina 2001Artigo -
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Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes mā Juliana F. Mazzeu, Ana Cristina Victorino Krepischi, Carla Rosenberg, Charles Marques Lourenço, Karina Lezirovitz, Károly Szuhai, Lúcia Martelli, Angela Maria Vianna‐Morgante
I whakaputaina 2007Artigo -
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The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation mā Ana Carolina Fonseca, Adriano Bonaldi, Simone Aparecida Siqueira Fonseca, Paulo Alberto Otto, Fernando Kok, Mads Bak, Niels Tommerup, Angela Maria Vianna‐Morgante
I whakaputaina 2015Artigo -
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Dementia in Fragile X-associated Tremor/Ataxia Syndrome mā Ricardo Nitríni, Márcia Rúbia Rodrigues Gonçalves, Leonardo Pires Capelli, Egberto Reis Barbosa, Cláudia Sellitto Porto, Edson Amaro, Paulo Alberto Otto, Angela Maria Vianna‐Morgante
I whakaputaina 2010Artigo
Ngā utauta rapu:
Ngā marau whai pānga
Biology
Gene
Genetics
Medicine
Phenotype
Chromosome
Genome
Gene duplication
Breakpoint
Copy-number variation
Fragile X syndrome
Chromosomal translocation
Internal medicine
Allele
Computational biology
Comparative genomic hybridization
Fragile x
Pediatrics
Population
X chromosome
FMR1
Intellectual disability
Locus (genetics)
Mutation
Psychiatry
Gene expression
Gene family
Karyotype
Pathology
Segmental duplication