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Molecular Genetics & Genomic Medicine
|
March 16, 2022
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing
Bianca R Grosz, Stephen Tisch, Michel C Tchan, et al.
Journal of the Endocrine Society
|
September 17, 2020
Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an <i>LMNA</i> p.R349W Variant
Iram Hussain, Ruilin Raelene Jin, Howard B A Baum, et al.
American Journal of Human Genetics
|
June 29, 2010
X-linked cone dystrophy caused by mutation of the red and green cone opsins
Jessica C Gardner, Tom R Webb, Naheed Kanuga, et al.
International Journal of Cardiology
|
February 13, 2021
Investigation of current models of care for genetic heart disease in Australia: A national clinical audit
Rachel Austin, Michael C J Quinn, Clifford Afoakwah, et al.
American Journal of Human Genetics
|
January 31, 2012
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy
Pia Ostergaard, Michael A Simpson, Antonella Mendola, et al.
Page
of 2
Search research articles
Search
Showing results (11-20 of 15) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 15 results.
Molecular Genetics & Genomic Medicine
|
March 16, 2022
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing
Bianca R Grosz, Stephen Tisch, Michel C Tchan, et al.
Journal of the Endocrine Society
|
September 17, 2020
Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an <i>LMNA</i> p.R349W Variant
Iram Hussain, Ruilin Raelene Jin, Howard B A Baum, et al.
American Journal of Human Genetics
|
June 29, 2010
X-linked cone dystrophy caused by mutation of the red and green cone opsins
Jessica C Gardner, Tom R Webb, Naheed Kanuga, et al.
International Journal of Cardiology
|
February 13, 2021
Investigation of current models of care for genetic heart disease in Australia: A national clinical audit
Rachel Austin, Michael C J Quinn, Clifford Afoakwah, et al.
American Journal of Human Genetics
|
January 31, 2012
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy
Pia Ostergaard, Michael A Simpson, Antonella Mendola, et al.
Page
of 2