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Circulation. Genomic and Precision Medicine
|
October 17, 2022
Genetic Basis of Childhood Cardiomyopathy
Richard D Bagnall, Emma S Singer, Julie Wacker, et al.
Journal of the American College of Cardiology
|
July 21, 2018
Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy
Richard D Bagnall, Jodie Ingles, Marcel E Dinger, et al.
Neuropediatrics
|
November 29, 2019
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy
Lien Van Eyck, Francesco Bruni, Anne Ronan, et al.
Journal of Medical Genetics
|
October 26, 2010
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib
Stéphanie Maupetit-Méhouas, Virginie Mariot, Christelle Reynès, et al.
Molecular Neurobiology
|
June 7, 2012
BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients
Asma Tlili, Alexander Hoischen, Clémentine Ripoll, et al.
Journal of Medical Genetics
|
January 14, 2012
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
Ruxandra Bachmann-Gagescu, Gisele E Ishak, Jennifer C Dempsey, et al.
European Journal of Human Genetics : EJHG
|
August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
Lisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
Genome Research
|
February 27, 2025
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia
Haloom Rafehi, Liam G Fearnley, Justin Read, et al.
American Journal of Human Genetics
|
June 3, 2017
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
Michele Gabriele, Anneke T Vulto-van Silfhout, Pierre-Luc Germain, et al.
American Journal of Human Genetics
|
February 24, 2022
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Federico Tessadori, Karen Duran, Karen Knapp, et al.
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of 3
Search research articles
Search
Showing results (11-20 of 23) with videos related to
Sort By:
Page
of 3
Circulation. Genomic and Precision Medicine
|
October 17, 2022
Genetic Basis of Childhood Cardiomyopathy
Richard D Bagnall, Emma S Singer, Julie Wacker, et al.
Journal of the American College of Cardiology
|
July 21, 2018
Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy
Richard D Bagnall, Jodie Ingles, Marcel E Dinger, et al.
Neuropediatrics
|
November 29, 2019
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy
Lien Van Eyck, Francesco Bruni, Anne Ronan, et al.
Journal of Medical Genetics
|
October 26, 2010
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib
Stéphanie Maupetit-Méhouas, Virginie Mariot, Christelle Reynès, et al.
Molecular Neurobiology
|
June 7, 2012
BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients
Asma Tlili, Alexander Hoischen, Clémentine Ripoll, et al.
Journal of Medical Genetics
|
January 14, 2012
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
Ruxandra Bachmann-Gagescu, Gisele E Ishak, Jennifer C Dempsey, et al.
European Journal of Human Genetics : EJHG
|
August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
Lisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
Genome Research
|
February 27, 2025
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia
Haloom Rafehi, Liam G Fearnley, Justin Read, et al.
American Journal of Human Genetics
|
June 3, 2017
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
Michele Gabriele, Anneke T Vulto-van Silfhout, Pierre-Luc Germain, et al.
American Journal of Human Genetics
|
February 24, 2022
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Federico Tessadori, Karen Duran, Karen Knapp, et al.
Page
of 3