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Proceedings of the National Academy of Sciences of the United States of America
|
August 8, 2008
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome
Adam Shlien, Uri Tabori, Christian R Marshall, et al.
Journal of Neurodevelopmental Disorders
|
April 13, 2011
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
Alistair T Pagnamenta, Richard Holt, Mohammed Yusuf, et al.
Genes
|
March 25, 2022
Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous <i>POLR2A</i> Variant
Daniel R Evans, Ying Qiao, Brett Trost, et al.
Diabetes
|
September 3, 1998
A common variant in PPP1R3 associated with insulin resistance and type 2 diabetes
J Xia, S W Scherer, P T Cohen, et al.
Human Genetics
|
August 1, 1997
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly
E Roessler, D E Ward, K Gaudenz, et al.
Genomics
|
January 25, 2000
Chromosomal localization of phospholipase A2 activating protein, an Ets2 target gene, to 9p21
B G Beatty, S Qi, M Pienkowska, et al.
Plos One
|
June 12, 2019
Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease
Svetlana Frenkel, Charles N Bernstein, Michael Sargent, et al.
Leukemia
|
April 1, 1996
Classification of deletions and identification of cryptic translocations involving 7q by fluorescence in situ hybridization (FISH)
S Tosi, J Harbott, O A Haas, et al.
Neurology
|
December 10, 2003
Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls
D M Andrade, C A Ackerley, T S C Minett, et al.
Journal of Medical Genetics
|
March 25, 2006
An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster
J B Vincent, S I Horike, S Choufani, et al.
Page
of 92
Search research articles
Search
Showing results (461-470 of 915) with videos related to
Sort By:
Page
of 92
Proceedings of the National Academy of Sciences of the United States of America
|
August 8, 2008
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome
Adam Shlien, Uri Tabori, Christian R Marshall, et al.
Journal of Neurodevelopmental Disorders
|
April 13, 2011
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
Alistair T Pagnamenta, Richard Holt, Mohammed Yusuf, et al.
Genes
|
March 25, 2022
Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous <i>POLR2A</i> Variant
Daniel R Evans, Ying Qiao, Brett Trost, et al.
Diabetes
|
September 3, 1998
A common variant in PPP1R3 associated with insulin resistance and type 2 diabetes
J Xia, S W Scherer, P T Cohen, et al.
Human Genetics
|
August 1, 1997
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly
E Roessler, D E Ward, K Gaudenz, et al.
Genomics
|
January 25, 2000
Chromosomal localization of phospholipase A2 activating protein, an Ets2 target gene, to 9p21
B G Beatty, S Qi, M Pienkowska, et al.
Plos One
|
June 12, 2019
Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease
Svetlana Frenkel, Charles N Bernstein, Michael Sargent, et al.
Leukemia
|
April 1, 1996
Classification of deletions and identification of cryptic translocations involving 7q by fluorescence in situ hybridization (FISH)
S Tosi, J Harbott, O A Haas, et al.
Neurology
|
December 10, 2003
Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls
D M Andrade, C A Ackerley, T S C Minett, et al.
Journal of Medical Genetics
|
March 25, 2006
An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster
J B Vincent, S I Horike, S Choufani, et al.
Page
of 92