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American Journal of Medical Genetics. Part A
|
October 15, 2013
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum
Cristina Gervasini, Silvia Russo, Anna Cereda, et al.
Pediatric Nephrology (Berlin, Germany)
|
October 22, 2011
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome
Alessandro Mussa, Licia Peruzzi, Nicoletta Chiesa, et al.
Haematologica
|
September 2, 2004
KIT activating mutations: incidence in adult and pediatric acute myeloid leukemia, and identification of an internal tandem duplication
Alessandro Beghini, Carla B Ripamonti, Roberto Cairoli, et al.
Epigenetics
|
April 27, 2010
Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction
Silvia Tabano, Patrizia Colapietro, Irene Cetin, et al.
BMC Medical Genetics
|
April 5, 2013
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
Cristina Gervasini, Chiara Picinelli, Jacopo Azzollini, et al.
Endocrine Development
|
March 19, 2009
Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor
Andrea Riccio, Angela Sparago, Gaetano Verde, et al.
International Journal of Dermatology
|
January 12, 2017
Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib
Divya Gupta, Laxmisha Chandrashekar, Lidia Larizza, et al.
International Journal of Molecular Sciences
|
February 2, 2018
Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life
Laura Rachele Bettini, Federica Graziola, Grazia Fazio, et al.
European Journal of Human Genetics : EJHG
|
February 23, 2012
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
Silvia Russo, Maura Masciadri, Cristina Gervasini, et al.
Oncogene
|
May 9, 2003
The neural progenitor-restricted isoform of the MARK4 gene in 19q13.2 is upregulated in human gliomas and overexpressed in a subset of glioblastoma cell lines
Alessandro Beghini, Ivana Magnani, Gaia Roversi, et al.
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of 15
Search research articles
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Showing results (91-100 of 150) with videos related to
Sort By:
Page
of 15
American Journal of Medical Genetics. Part A
|
October 15, 2013
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum
Cristina Gervasini, Silvia Russo, Anna Cereda, et al.
Pediatric Nephrology (Berlin, Germany)
|
October 22, 2011
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome
Alessandro Mussa, Licia Peruzzi, Nicoletta Chiesa, et al.
Haematologica
|
September 2, 2004
KIT activating mutations: incidence in adult and pediatric acute myeloid leukemia, and identification of an internal tandem duplication
Alessandro Beghini, Carla B Ripamonti, Roberto Cairoli, et al.
Epigenetics
|
April 27, 2010
Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction
Silvia Tabano, Patrizia Colapietro, Irene Cetin, et al.
BMC Medical Genetics
|
April 5, 2013
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
Cristina Gervasini, Chiara Picinelli, Jacopo Azzollini, et al.
Endocrine Development
|
March 19, 2009
Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor
Andrea Riccio, Angela Sparago, Gaetano Verde, et al.
International Journal of Dermatology
|
January 12, 2017
Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib
Divya Gupta, Laxmisha Chandrashekar, Lidia Larizza, et al.
International Journal of Molecular Sciences
|
February 2, 2018
Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life
Laura Rachele Bettini, Federica Graziola, Grazia Fazio, et al.
European Journal of Human Genetics : EJHG
|
February 23, 2012
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
Silvia Russo, Maura Masciadri, Cristina Gervasini, et al.
Oncogene
|
May 9, 2003
The neural progenitor-restricted isoform of the MARK4 gene in 19q13.2 is upregulated in human gliomas and overexpressed in a subset of glioblastoma cell lines
Alessandro Beghini, Ivana Magnani, Gaia Roversi, et al.
Page
of 15