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American Journal of Human Genetics
|
May 15, 2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
David T Miller, Margaret P Adam, Swaroop Aradhya, et al.
Arthritis and Rheumatism
|
May 14, 2013
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation
Alexandre Belot, Paul R Kasher, Eleanor W Trotter, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
March 18, 2014
Characterizing genetic variants for clinical action
Erin M Ramos, Corina Din-Lovinescu, Jonathan S Berg, et al.
Nature Genetics
|
November 8, 2016
Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number
Jonathan J Lyons, Xiaomin Yu, Jason D Hughes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 23, 2018
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, et al.
American Journal of Human Genetics
|
September 8, 2018
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
Laura M Amendola, Jonathan S Berg, Carol R Horowitz, et al.
The New England Journal of Medicine
|
July 29, 2011
A mosaic activating mutation in AKT1 associated with the Proteus syndrome
Marjorie J Lindhurst, Julie C Sapp, Jamie K Teer, et al.
The Journal of Clinical Investigation
|
November 2, 2018
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, et al.
The Journal of Clinical Investigation
|
February 21, 2018
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, et al.
American Journal of Human Genetics
|
September 3, 2019
Redefining the Etiologic Landscape of Cerebellar Malformations
Kimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.
Page
of 48
Search research articles
Search
Showing results (451-460 of 475) with videos related to
Sort By:
Page
of 48
American Journal of Human Genetics
|
May 15, 2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
David T Miller, Margaret P Adam, Swaroop Aradhya, et al.
Arthritis and Rheumatism
|
May 14, 2013
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation
Alexandre Belot, Paul R Kasher, Eleanor W Trotter, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
March 18, 2014
Characterizing genetic variants for clinical action
Erin M Ramos, Corina Din-Lovinescu, Jonathan S Berg, et al.
Nature Genetics
|
November 8, 2016
Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number
Jonathan J Lyons, Xiaomin Yu, Jason D Hughes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 23, 2018
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, et al.
American Journal of Human Genetics
|
September 8, 2018
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
Laura M Amendola, Jonathan S Berg, Carol R Horowitz, et al.
The New England Journal of Medicine
|
July 29, 2011
A mosaic activating mutation in AKT1 associated with the Proteus syndrome
Marjorie J Lindhurst, Julie C Sapp, Jamie K Teer, et al.
The Journal of Clinical Investigation
|
November 2, 2018
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, et al.
The Journal of Clinical Investigation
|
February 21, 2018
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, et al.
American Journal of Human Genetics
|
September 3, 2019
Redefining the Etiologic Landscape of Cerebellar Malformations
Kimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.
Page
of 48