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European Journal of Human Genetics : EJHG
|
December 1, 2020
Long-read trio sequencing of individuals with unsolved intellectual disability
Marc Pauper, Erdi Kucuk, Aaron M Wenger, et al.
Genome Research
|
July 16, 2010
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15
Andrew J Sharp, Eugenia Migliavacca, Yann Dupre, et al.
European Journal of Human Genetics : EJHG
|
November 7, 2013
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome
Sonja A de Munnik, Sixto García-Miñaúr, Alexander Hoischen, et al.
Circulation
|
September 21, 2020
Distinct Cardiac Transcriptomic Clustering in Titin and Lamin A/C-Associated Dilated Cardiomyopathy Patients
Job A J Verdonschot, Kasper W J Derks, Mark R Hazebroek, et al.
Human Molecular Genetics
|
March 28, 2008
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes
Tuula Rinne, Suzanne E Clements, Evert Lamme, et al.
Human Genetics
|
June 29, 2004
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)
Mirjam W J Luijendijk, Erwin Van Wijk, Anne M L C Bischoff, et al.
Human Mutation
|
April 25, 2018
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability
Servi J C Stevens, Vyne van der Schoot, Magalie S Leduc, et al.
Human Mutation
|
May 13, 2008
Genotype-phenotype correlations in MYCN-related Feingold syndrome
Carlo L M Marcelis, Frans A Hol, Gail E Graham, et al.
The American Journal of Psychiatry
|
February 13, 2020
Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in <i>Drosophila</i>
Marieke Klein, Euginia L Singgih, Anne van Rens, et al.
American Journal of Human Genetics
|
May 7, 2002
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
Marco Tartaglia, Kamini Kalidas, Adam Shaw, et al.
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of 32
Search research articles
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Showing results (91-100 of 318) with videos related to
Sort By:
Page
of 32
European Journal of Human Genetics : EJHG
|
December 1, 2020
Long-read trio sequencing of individuals with unsolved intellectual disability
Marc Pauper, Erdi Kucuk, Aaron M Wenger, et al.
Genome Research
|
July 16, 2010
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15
Andrew J Sharp, Eugenia Migliavacca, Yann Dupre, et al.
European Journal of Human Genetics : EJHG
|
November 7, 2013
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome
Sonja A de Munnik, Sixto García-Miñaúr, Alexander Hoischen, et al.
Circulation
|
September 21, 2020
Distinct Cardiac Transcriptomic Clustering in Titin and Lamin A/C-Associated Dilated Cardiomyopathy Patients
Job A J Verdonschot, Kasper W J Derks, Mark R Hazebroek, et al.
Human Molecular Genetics
|
March 28, 2008
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes
Tuula Rinne, Suzanne E Clements, Evert Lamme, et al.
Human Genetics
|
June 29, 2004
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)
Mirjam W J Luijendijk, Erwin Van Wijk, Anne M L C Bischoff, et al.
Human Mutation
|
April 25, 2018
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability
Servi J C Stevens, Vyne van der Schoot, Magalie S Leduc, et al.
Human Mutation
|
May 13, 2008
Genotype-phenotype correlations in MYCN-related Feingold syndrome
Carlo L M Marcelis, Frans A Hol, Gail E Graham, et al.
The American Journal of Psychiatry
|
February 13, 2020
Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in <i>Drosophila</i>
Marieke Klein, Euginia L Singgih, Anne van Rens, et al.
American Journal of Human Genetics
|
May 7, 2002
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
Marco Tartaglia, Kamini Kalidas, Adam Shaw, et al.
Page
of 32