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David A Parry

Showing results (51-60 of 63) with videos related to

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Nature Genetics|April 8, 2014
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeGhayda Mirzaa, David A Parry, Andrew E Fry, et al.
Genome Biology|November 30, 2016
Characterizing the morbid genome of ciliopathiesRanad Shaheen, Katarzyna Szymanska, Basudha Basu, et al.
Nature Genetics|December 17, 2013
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalingClare V Logan, György Szabadkai, Jenny A Sharpe, et al.
The Journal of Allergy and Clinical Immunology|May 26, 2016
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort studyElodie Elkaim, Benedicte Neven, Julie Bruneau, et al.
Plos Biology|December 15, 2020
A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detectionMartin A M Reijns, Louise Thompson, Juan Carlos Acosta, et al.
Neuron|November 21, 2020
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with MicrocephalyGuoliang Chai, Alice Webb, Chen Li, et al.
American Journal of Human Genetics|December 4, 2018
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable ImmunodeficiencyClare V Logan, Jennie E Murray, David A Parry, et al.
American Journal of Human Genetics|July 31, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
American Journal of Human Genetics|October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationCarlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
American Journal of Human Genetics|February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia PhenotypesLindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.
Pageof 7

Showing results (51-60 of 63) with videos related to

Sort By:
Pageof 7
Nature Genetics|April 8, 2014
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeGhayda Mirzaa, David A Parry, Andrew E Fry, et al.
Genome Biology|November 30, 2016
Characterizing the morbid genome of ciliopathiesRanad Shaheen, Katarzyna Szymanska, Basudha Basu, et al.
Nature Genetics|December 17, 2013
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalingClare V Logan, György Szabadkai, Jenny A Sharpe, et al.
The Journal of Allergy and Clinical Immunology|May 26, 2016
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort studyElodie Elkaim, Benedicte Neven, Julie Bruneau, et al.
Plos Biology|December 15, 2020
A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detectionMartin A M Reijns, Louise Thompson, Juan Carlos Acosta, et al.
Neuron|November 21, 2020
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with MicrocephalyGuoliang Chai, Alice Webb, Chen Li, et al.
American Journal of Human Genetics|December 4, 2018
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable ImmunodeficiencyClare V Logan, Jennie E Murray, David A Parry, et al.
American Journal of Human Genetics|July 31, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
American Journal of Human Genetics|October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationCarlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
American Journal of Human Genetics|February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia PhenotypesLindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.
Pageof 7