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Orphanet Journal of Rare Diseases
|
January 25, 2012
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
Elisa A Colombo, J Fernando Bazan, Gloria Negri, et al.
Analytical Cellular Pathology (Amsterdam)
|
December 14, 2011
Differential signature of the centrosomal MARK4 isoforms in glioma
Ivana Magnani, Chiara Novielli, Laura Fontana, et al.
Blood
|
December 31, 2005
Prognostic impact of c-KIT mutations in core binding factor leukemias: an Italian retrospective study
Roberto Cairoli, Alessandro Beghini, Giovanni Grillo, et al.
Genes
|
April 30, 2021
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
Ilaria Catusi, Maria Garzo, Anna Paola Capra, et al.
European Journal of Medical Genetics
|
November 28, 2017
Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature
Maria Paola Recalcati, Maria Teresa Bonati, Nicola Beltrami, et al.
International Journal of Molecular Sciences
|
July 27, 2019
Pathogenic Variants in <i>STXBP1</i> and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes
Francesca Cogliati, Valentina Giorgini, Maura Masciadri, et al.
BMC Cancer
|
June 17, 2015
TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival
Lucia Micale, Carmela Fusco, Andrea Fontana, et al.
Journal of Medical Genetics
|
January 9, 2007
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients
Lucia Ballarati, Elena Rossi, Maria Teresa Bonati, et al.
European Journal of Medical Genetics
|
March 13, 2019
Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism
Maria Garzo, Ilaria Catusi, Daniela Maria Colombo, et al.
European Journal of Human Genetics : EJHG
|
April 23, 2015
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, et al.
Page
of 15
Search research articles
Search
Showing results (121-130 of 150) with videos related to
Sort By:
Page
of 15
Orphanet Journal of Rare Diseases
|
January 25, 2012
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
Elisa A Colombo, J Fernando Bazan, Gloria Negri, et al.
Analytical Cellular Pathology (Amsterdam)
|
December 14, 2011
Differential signature of the centrosomal MARK4 isoforms in glioma
Ivana Magnani, Chiara Novielli, Laura Fontana, et al.
Blood
|
December 31, 2005
Prognostic impact of c-KIT mutations in core binding factor leukemias: an Italian retrospective study
Roberto Cairoli, Alessandro Beghini, Giovanni Grillo, et al.
Genes
|
April 30, 2021
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
Ilaria Catusi, Maria Garzo, Anna Paola Capra, et al.
European Journal of Medical Genetics
|
November 28, 2017
Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature
Maria Paola Recalcati, Maria Teresa Bonati, Nicola Beltrami, et al.
International Journal of Molecular Sciences
|
July 27, 2019
Pathogenic Variants in <i>STXBP1</i> and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes
Francesca Cogliati, Valentina Giorgini, Maura Masciadri, et al.
BMC Cancer
|
June 17, 2015
TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival
Lucia Micale, Carmela Fusco, Andrea Fontana, et al.
Journal of Medical Genetics
|
January 9, 2007
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients
Lucia Ballarati, Elena Rossi, Maria Teresa Bonati, et al.
European Journal of Medical Genetics
|
March 13, 2019
Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism
Maria Garzo, Ilaria Catusi, Daniela Maria Colombo, et al.
European Journal of Human Genetics : EJHG
|
April 23, 2015
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, et al.
Page
of 15