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Journal of the Neurological Sciences
|
March 4, 1999
Autoimmune events during interferon beta-1b treatment for multiple sclerosis
L Durelli, B Ferrero, A Oggero, et al.
Plos Genetics
|
November 22, 2011
Relative burden of large CNVs on a range of neurodevelopmental phenotypes
Santhosh Girirajan, Zoran Brkanac, Bradley P Coe, et al.
Journal of Medical Genetics
|
June 17, 2003
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
N V Morgan, C Bacchelli, P Gissen, et al.
Cytogenetic and Genome Research
|
December 15, 2015
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications
Eleonora Di Gregorio, Giorgia Gai, Giovanni Botta, et al.
Human Mutation
|
March 3, 2019
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations
Diana Carli, Elisa Giorgio, Francesca Pantaleoni, et al.
Clinical Genetics
|
February 10, 2016
Fetal growth patterns in Beckwith-Wiedemann syndrome
A Mussa, S Russo, A de Crescenzo, et al.
American Journal of Medical Genetics. Part A
|
May 6, 2017
Nomenclature and definition in asymmetric regional body overgrowth
Jennifer M Kalish, Leslie G Biesecker, Frederic Brioude, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2005
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth
M Cecconi, F Forzano, D Milani, et al.
American Journal of Human Genetics
|
August 8, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
Katherine A Wood, R Spencer Tong, Marialetizia Motta, et al.
Data in Brief
|
March 16, 2018
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results
Giulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, et al.
Page
of 10
Search research articles
Search
Showing results (71-80 of 97) with videos related to
Sort By:
Page
of 10
Journal of the Neurological Sciences
|
March 4, 1999
Autoimmune events during interferon beta-1b treatment for multiple sclerosis
L Durelli, B Ferrero, A Oggero, et al.
Plos Genetics
|
November 22, 2011
Relative burden of large CNVs on a range of neurodevelopmental phenotypes
Santhosh Girirajan, Zoran Brkanac, Bradley P Coe, et al.
Journal of Medical Genetics
|
June 17, 2003
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
N V Morgan, C Bacchelli, P Gissen, et al.
Cytogenetic and Genome Research
|
December 15, 2015
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications
Eleonora Di Gregorio, Giorgia Gai, Giovanni Botta, et al.
Human Mutation
|
March 3, 2019
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations
Diana Carli, Elisa Giorgio, Francesca Pantaleoni, et al.
Clinical Genetics
|
February 10, 2016
Fetal growth patterns in Beckwith-Wiedemann syndrome
A Mussa, S Russo, A de Crescenzo, et al.
American Journal of Medical Genetics. Part A
|
May 6, 2017
Nomenclature and definition in asymmetric regional body overgrowth
Jennifer M Kalish, Leslie G Biesecker, Frederic Brioude, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2005
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth
M Cecconi, F Forzano, D Milani, et al.
American Journal of Human Genetics
|
August 8, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
Katherine A Wood, R Spencer Tong, Marialetizia Motta, et al.
Data in Brief
|
March 16, 2018
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results
Giulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, et al.
Page
of 10