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European Journal of Medical Genetics
|
October 26, 2010
Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature
Lucia Ballarati, Anna Cereda, Rossella Caselli, et al.
Cancer Genetics and Cytogenetics
|
August 17, 2005
Identification of oligodendroglioma specific chromosomal copy number changes in the glioblastoma MI-4 cell line by array-CGH and FISH analyses
Ivana Magnani, Ramona Frida Moroni, Ramona Frida Ramona, et al.
European Journal of Cell Biology
|
August 16, 2014
Microtubule-associated protein/microtubule affinity-regulating kinase 4 (MARK4) plays a role in cell cycle progression and cytoskeletal dynamics
Davide Rovina, Laura Fontana, Laura Monti, et al.
British Journal of Haematology
|
August 27, 2015
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms
Gloria Negri, Barbara Crescenzi, Elisa Adele Colombo, et al.
European Journal of Medical Genetics
|
May 14, 2018
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings
Daniela Concolino, Simona Sestito, Francesca Falvo, et al.
Endocrine-Related Cancer
|
December 3, 2005
High-mobility group A2 gene expression is frequently induced in non-functioning pituitary adenomas (NFPAs), even in the absence of chromosome 12 polysomy
Giovanna Maria Pierantoni, Palma Finelli, Emanuele Valtorta, et al.
European Journal of Pediatrics
|
March 21, 2007
Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes
Yves Sznajer, H Annika Siitonen, Gaia Roversi, et al.
Journal of Human Genetics
|
October 3, 2014
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy
Jacopo Azzollini, Davide Rovina, Cristina Gervasini, et al.
American Journal of Medical Genetics. Part A
|
October 24, 2014
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature
Chiara Castronovo, Milena Crippa, Ilaria Bestetti, et al.
American Journal of Medical Genetics. Part A
|
January 24, 2013
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype
Chiara Castronovo, Daniela Rusconi, Milena Crippa, et al.
Page
of 15
Search research articles
Search
Showing results (51-60 of 150) with videos related to
Sort By:
Page
of 15
European Journal of Medical Genetics
|
October 26, 2010
Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature
Lucia Ballarati, Anna Cereda, Rossella Caselli, et al.
Cancer Genetics and Cytogenetics
|
August 17, 2005
Identification of oligodendroglioma specific chromosomal copy number changes in the glioblastoma MI-4 cell line by array-CGH and FISH analyses
Ivana Magnani, Ramona Frida Moroni, Ramona Frida Ramona, et al.
European Journal of Cell Biology
|
August 16, 2014
Microtubule-associated protein/microtubule affinity-regulating kinase 4 (MARK4) plays a role in cell cycle progression and cytoskeletal dynamics
Davide Rovina, Laura Fontana, Laura Monti, et al.
British Journal of Haematology
|
August 27, 2015
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms
Gloria Negri, Barbara Crescenzi, Elisa Adele Colombo, et al.
European Journal of Medical Genetics
|
May 14, 2018
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings
Daniela Concolino, Simona Sestito, Francesca Falvo, et al.
Endocrine-Related Cancer
|
December 3, 2005
High-mobility group A2 gene expression is frequently induced in non-functioning pituitary adenomas (NFPAs), even in the absence of chromosome 12 polysomy
Giovanna Maria Pierantoni, Palma Finelli, Emanuele Valtorta, et al.
European Journal of Pediatrics
|
March 21, 2007
Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes
Yves Sznajer, H Annika Siitonen, Gaia Roversi, et al.
Journal of Human Genetics
|
October 3, 2014
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy
Jacopo Azzollini, Davide Rovina, Cristina Gervasini, et al.
American Journal of Medical Genetics. Part A
|
October 24, 2014
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature
Chiara Castronovo, Milena Crippa, Ilaria Bestetti, et al.
American Journal of Medical Genetics. Part A
|
January 24, 2013
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype
Chiara Castronovo, Daniela Rusconi, Milena Crippa, et al.
Page
of 15