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Journal of Clinical Immunology
|
January 24, 2014
Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients
Ofir Wolach, Taco Kuijpers, Josef Ben-Ari, et al.
European Journal of Human Genetics : EJHG
|
November 6, 2022
Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9
Jian Gao, Conor McClenaghan, Imke Christiaans, et al.
Circulation. Cardiovascular Genetics
|
September 6, 2012
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome
John R Giudicessi, Jamie D Kapplinger, David J Tester, et al.
Cold Spring Harbor Molecular Case Studies
|
October 27, 2019
A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder
Eileen G Daniels, Marielle Alders, Marco Lezzerini, et al.
Frontiers in Pediatrics
|
March 15, 2017
Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical <i>FOXP3</i> Mutation
Paul Tuijnenburg, Eloy Cuadrado, Annet M Bosch, et al.
Heart Rhythm
|
January 10, 2006
Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies
Tamara T Koopmann, Marielle Alders, Roselie J Jongbloed, et al.
JIMD Reports
|
October 24, 2018
Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1
André B P van Kuilenburg, Judith Meijer, Rutger Meinsma, et al.
American Journal of Medical Genetics. Part A
|
April 30, 2016
Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype
Emmanuel Scalais, Anne-Catherine Connerotte, Karine Despontin, et al.
Circulation
|
October 21, 2009
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants
Suraj Kapa, David J Tester, Benjamin A Salisbury, et al.
Human Genetics
|
April 10, 2002
A locus for hereditary capillary malformations mapped on chromosome 5q
Corstiaan C Breugem, Marielle Alders, Georgette B Salieb-Beugelaar, et al.
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of 8
Search research articles
Search
Showing results (11-20 of 76) with videos related to
Sort By:
Page
of 8
Journal of Clinical Immunology
|
January 24, 2014
Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients
Ofir Wolach, Taco Kuijpers, Josef Ben-Ari, et al.
European Journal of Human Genetics : EJHG
|
November 6, 2022
Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9
Jian Gao, Conor McClenaghan, Imke Christiaans, et al.
Circulation. Cardiovascular Genetics
|
September 6, 2012
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome
John R Giudicessi, Jamie D Kapplinger, David J Tester, et al.
Cold Spring Harbor Molecular Case Studies
|
October 27, 2019
A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder
Eileen G Daniels, Marielle Alders, Marco Lezzerini, et al.
Frontiers in Pediatrics
|
March 15, 2017
Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical <i>FOXP3</i> Mutation
Paul Tuijnenburg, Eloy Cuadrado, Annet M Bosch, et al.
Heart Rhythm
|
January 10, 2006
Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies
Tamara T Koopmann, Marielle Alders, Roselie J Jongbloed, et al.
JIMD Reports
|
October 24, 2018
Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1
André B P van Kuilenburg, Judith Meijer, Rutger Meinsma, et al.
American Journal of Medical Genetics. Part A
|
April 30, 2016
Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype
Emmanuel Scalais, Anne-Catherine Connerotte, Karine Despontin, et al.
Circulation
|
October 21, 2009
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants
Suraj Kapa, David J Tester, Benjamin A Salisbury, et al.
Human Genetics
|
April 10, 2002
A locus for hereditary capillary malformations mapped on chromosome 5q
Corstiaan C Breugem, Marielle Alders, Georgette B Salieb-Beugelaar, et al.
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of 8