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Clinical Genetics
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December 8, 2025
Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions
Tanner J Nelson, Daniel E McGinn, T Blaine Crowley, et al.
Journal of Medical Genetics
|
October 17, 2009
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome
Bernard Thienpont, Frédérique Béna, Jeroen Breckpot, et al.
NPJ Genomic Medicine
|
June 2, 2026
Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study
Enrique Audain, Anna Wilsdon, Gregor Dombrowsky, et al.
Human Molecular Genetics
|
December 27, 2011
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
Rachel Soemedi, Ana Topf, Ian J Wilson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 30, 2023
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome
Laurens Hannes, Marta Atzori, Alice Goldenberg, et al.
Clinical Genetics
|
December 28, 2020
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Diego Lopergolo, Flavia Privitera, Giuseppe Castello, et al.
American Journal of Medical Genetics. Part A
|
November 21, 2012
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
Mauro Longoni, Kasper Lage, Meaghan K Russell, et al.
Human Mutation
|
July 29, 2011
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients
Tingwei Guo, Donna McDonald-McGinn, Anna Blonska, et al.
Human Molecular Genetics
|
January 24, 2018
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2
Tingwei Guo, Alexander Diacou, Hiroko Nomaru, et al.
American Journal of Human Genetics
|
September 4, 2012
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease
Rachel Soemedi, Ian J Wilson, Jamie Bentham, et al.
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of 11
Search research articles
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Showing results (61-70 of 103) with videos related to
Sort By:
Page
of 11
Clinical Genetics
|
December 8, 2025
Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions
Tanner J Nelson, Daniel E McGinn, T Blaine Crowley, et al.
Journal of Medical Genetics
|
October 17, 2009
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome
Bernard Thienpont, Frédérique Béna, Jeroen Breckpot, et al.
NPJ Genomic Medicine
|
June 2, 2026
Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study
Enrique Audain, Anna Wilsdon, Gregor Dombrowsky, et al.
Human Molecular Genetics
|
December 27, 2011
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
Rachel Soemedi, Ana Topf, Ian J Wilson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 30, 2023
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome
Laurens Hannes, Marta Atzori, Alice Goldenberg, et al.
Clinical Genetics
|
December 28, 2020
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Diego Lopergolo, Flavia Privitera, Giuseppe Castello, et al.
American Journal of Medical Genetics. Part A
|
November 21, 2012
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
Mauro Longoni, Kasper Lage, Meaghan K Russell, et al.
Human Mutation
|
July 29, 2011
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients
Tingwei Guo, Donna McDonald-McGinn, Anna Blonska, et al.
Human Molecular Genetics
|
January 24, 2018
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2
Tingwei Guo, Alexander Diacou, Hiroko Nomaru, et al.
American Journal of Human Genetics
|
September 4, 2012
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease
Rachel Soemedi, Ian J Wilson, Jamie Bentham, et al.
Page
of 11