Ngā hua rapu - Cinzia Cameli
- E whakaatu ana i te 1 - 3 hua o te 3
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1
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray mā Elena Bacchelli, Cinzia Cameli, Marta Viggiano, Roberta Igliozzi, Alice Mancini, Raffaella Tancredi, Agatino Battaglia, Elena Maestrini
I whakaputaina 2020Artigo -
2
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene mā Elena Bacchelli, Eleonora Loi, Cinzia Cameli, Loredana Moi, Ana Florencia Vega-Benedetti, Sylvain Blois, Antonio Fadda, Elena Bonora, Sandra Mattu, Roberta Fadda, Rita Chessa, Elena Maestrini, Giuseppe Doneddu, Patrizia Zavattari
I whakaputaina 2019Artigo -
3
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates mā Marta Viggiano, Fabiola Ceroni, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Laura Sandoni, Irene Baravelli, Cinzia Cameli, Magali Jane Rochat, Alessandra Maresca, Alessandro Vaisfeld, Davide Gentilini, Luciano Calzari, Valério Carelli, Michael C. Zody, Elena Maestrini, Elena Bacchelli
I whakaputaina 2024Artigo
Ngā utauta rapu:
Ngā marau whai pānga
Biology
Copy-number variation
Exome sequencing
Gene
Genetics
Genome
Autism
Candidate gene
Genotype
Medicine
Missense mutation
Mutation
Psychiatry
Allele
Autism spectrum disorder
Bioinformatics
Epigenetics
Etiology
Exome
Frameshift mutation
Genetic heterogeneity
Genotyping
Neurodevelopmental disorder
Penetrance
Phenotype
Proband
Single-nucleotide polymorphism
Whole genome sequencing