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Sophie Devery

Showing results (11-20 of 15) with videos related to

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Molecular Genetics & Genomic Medicine|March 16, 2022
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicingBianca 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 VariantIram 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 opsinsJessica 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 auditRachel 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 chorioretinopathyPia Ostergaard, Michael A Simpson, Antonella Mendola, et al.
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Showing results (11-20 of 15) with videos related to

Sort By:
Pageof 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 splicingBianca 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 VariantIram 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 opsinsJessica 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 auditRachel 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 chorioretinopathyPia Ostergaard, Michael A Simpson, Antonella Mendola, et al.
Pageof 2