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Anna Capalbo

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Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis|May 1, 2024
Graft collection by apheresis and graft compositionLuca Pierelli, Anna Capalbo
Prenatal Diagnosis|May 29, 2013
Interstitial 4q deletion associated with a mosaic complementary supernumerary marker chromosome in prenatal diagnosisAnna Capalbo, Lorenzo Sinibaldi, Laura Bernardini, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heartLaura Bernardini, Maria Grazia Giuffrida, Paola Francalanci, et al.
European Journal of Medical Genetics|August 14, 2019
A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disordersGianmaria Miolo, Maria Grazia Giuffrida, Giuseppe Corona, et al.
Diagnostics (Basel, Switzerland)|December 1, 2020
Identification of a De Novo Xq26.2 Microduplication Encompassing <i>FIRRE</i> Gene in a Child with Intellectual DisabilityGianmaria Miolo, Laura Bernardini, Anna Capalbo, et al.
American Journal of Medical Genetics. Part A|December 15, 2007
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genesLaura Bernardini, Chiara Palka, Caterina Ceccarini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 29, 2013
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic featuresAgatino Battaglia, Viola Doccini, Laura Bernardini, et al.
American Journal of Medical Genetics. Part A|April 11, 2015
An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbsChiara Barone, Antonio Novelli, Anna Capalbo, et al.
American Journal of Medical Genetics. Part A|November 15, 2007
Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplicationLaura Bernardini, Marco Castori, Anna Capalbo, et al.
European Journal of Human Genetics : EJHG|March 19, 2009
16p subtelomeric duplication: a clinically recognizable syndromeMaria Cristina Digilio, Laura Bernardini, Anna Capalbo, et al.
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Showing results (1-10 of 30) with videos related to

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Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis|May 1, 2024
Graft collection by apheresis and graft compositionLuca Pierelli, Anna Capalbo
Prenatal Diagnosis|May 29, 2013
Interstitial 4q deletion associated with a mosaic complementary supernumerary marker chromosome in prenatal diagnosisAnna Capalbo, Lorenzo Sinibaldi, Laura Bernardini, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heartLaura Bernardini, Maria Grazia Giuffrida, Paola Francalanci, et al.
European Journal of Medical Genetics|August 14, 2019
A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disordersGianmaria Miolo, Maria Grazia Giuffrida, Giuseppe Corona, et al.
Diagnostics (Basel, Switzerland)|December 1, 2020
Identification of a De Novo Xq26.2 Microduplication Encompassing <i>FIRRE</i> Gene in a Child with Intellectual DisabilityGianmaria Miolo, Laura Bernardini, Anna Capalbo, et al.
American Journal of Medical Genetics. Part A|December 15, 2007
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genesLaura Bernardini, Chiara Palka, Caterina Ceccarini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 29, 2013
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic featuresAgatino Battaglia, Viola Doccini, Laura Bernardini, et al.
American Journal of Medical Genetics. Part A|April 11, 2015
An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbsChiara Barone, Antonio Novelli, Anna Capalbo, et al.
American Journal of Medical Genetics. Part A|November 15, 2007
Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplicationLaura Bernardini, Marco Castori, Anna Capalbo, et al.
European Journal of Human Genetics : EJHG|March 19, 2009
16p subtelomeric duplication: a clinically recognizable syndromeMaria Cristina Digilio, Laura Bernardini, Anna Capalbo, et al.
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