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Human Genetics
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August 18, 2014
Using familial information for variant filtering in high-throughput sequencing studies
Melanie Bahlo, Rick Tankard, Vesna Lukic, et al.
BMC Medical Genomics
|
December 20, 2018
Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family
Sophia R Cameron-Christie, Justin Wilde, Andrew Gray, et al.
Molecular Genetics & Genomic Medicine
|
February 6, 2014
Challenges of diagnostic exome sequencing in an inbred founder population
Dimitar N Azmanov, Teodora Chamova, Rick Tankard, et al.
Neurology. Genetics
|
October 30, 2016
Heterozygous mutations in <i>HSD17B4</i> cause juvenile peroxisomal D-bifunctional protein deficiency
David J Amor, Ashley P L Marsh, Elsdon Storey, et al.
Geroscience
|
April 21, 2022
Comprehensive analysis of epigenetic clocks reveals associations between disproportionate biological ageing and hippocampal volume
Lidija Milicic, Michael Vacher, Tenielle Porter, et al.
Neurology. Genetics
|
April 12, 2016
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
Ashley P L Marsh, Vesna Lukic, Kate Pope, et al.
Annals of Clinical and Translational Neurology
|
September 5, 2015
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy
Michael S Hildebrand, Rick Tankard, Elena V Gazina, et al.
Nature Genetics
|
March 3, 2017
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Ashley P L Marsh, Delphine Heron, Timothy J Edwards, et al.
Nature Communications
|
July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
Human Genetics
|
August 18, 2014
Using familial information for variant filtering in high-throughput sequencing studies
Melanie Bahlo, Rick Tankard, Vesna Lukic, et al.
BMC Medical Genomics
|
December 20, 2018
Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family
Sophia R Cameron-Christie, Justin Wilde, Andrew Gray, et al.
Molecular Genetics & Genomic Medicine
|
February 6, 2014
Challenges of diagnostic exome sequencing in an inbred founder population
Dimitar N Azmanov, Teodora Chamova, Rick Tankard, et al.
Neurology. Genetics
|
October 30, 2016
Heterozygous mutations in <i>HSD17B4</i> cause juvenile peroxisomal D-bifunctional protein deficiency
David J Amor, Ashley P L Marsh, Elsdon Storey, et al.
Geroscience
|
April 21, 2022
Comprehensive analysis of epigenetic clocks reveals associations between disproportionate biological ageing and hippocampal volume
Lidija Milicic, Michael Vacher, Tenielle Porter, et al.
Neurology. Genetics
|
April 12, 2016
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
Ashley P L Marsh, Vesna Lukic, Kate Pope, et al.
Annals of Clinical and Translational Neurology
|
September 5, 2015
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy
Michael S Hildebrand, Rick Tankard, Elena V Gazina, et al.
Nature Genetics
|
March 3, 2017
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Ashley P L Marsh, Delphine Heron, Timothy J Edwards, et al.
Nature Communications
|
July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Page
of 1