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Rolph Pfundt

Showing results (71-80 of 286) with videos related to

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Genomics Data|August 11, 2015
Platform comparison of detecting copy number variants with microarrays and whole-exome sequencingJoep de Ligt, Philip M Boone, Rolph Pfundt, et al.
Plos One|November 19, 2014
Exome sequencing identifies three novel candidate genes implicated in intellectual disabilityZehra Agha, Zafar Iqbal, Maleeha Azam, et al.
Blood|October 23, 2004
Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridizationMargit Schraders, Rolph Pfundt, Huub M P Straatman, et al.
The Journal of Investigative Dermatology|December 16, 2005
High expression levels of keratinocyte antimicrobial proteins in psoriasis compared with atopic dermatitisGys J de Jongh, Patrick L J M Zeeuwen, Martina Kucharekova, et al.
Human Mutation|May 9, 2020
Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significanceMonica H N Thai, Alison Gardner, Laura Redpath, et al.
European Journal of Endocrinology|November 28, 2018
Germline and somatic mosaicism in a family with multiple endocrine neoplasia type 1 (MEN1) syndromeHanneke J B H Beijers, Nike M L Stikkelbroeck, Arjen R Mensenkamp, et al.
NPJ Genomic Medicine|August 16, 2018
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odysseyChristopher Cy Mak, Gordon Kc Leung, Gary Tk Mok, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypesCharlotte Snijders Blok, Nicole Corsten-Janssen, David R FitzPatrick, et al.
European Journal of Human Genetics : EJHG|December 30, 2010
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathyPaulien Smits, Ann Saada, Saskia B Wortmann, et al.
Developmental Medicine and Child Neurology|May 11, 2007
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed developmentSascha Vermeer, David A Koolen, Gepke Visser, et al.
Pageof 29

Showing results (71-80 of 286) with videos related to

Sort By:
Pageof 29
Genomics Data|August 11, 2015
Platform comparison of detecting copy number variants with microarrays and whole-exome sequencingJoep de Ligt, Philip M Boone, Rolph Pfundt, et al.
Plos One|November 19, 2014
Exome sequencing identifies three novel candidate genes implicated in intellectual disabilityZehra Agha, Zafar Iqbal, Maleeha Azam, et al.
Blood|October 23, 2004
Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridizationMargit Schraders, Rolph Pfundt, Huub M P Straatman, et al.
The Journal of Investigative Dermatology|December 16, 2005
High expression levels of keratinocyte antimicrobial proteins in psoriasis compared with atopic dermatitisGys J de Jongh, Patrick L J M Zeeuwen, Martina Kucharekova, et al.
Human Mutation|May 9, 2020
Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significanceMonica H N Thai, Alison Gardner, Laura Redpath, et al.
European Journal of Endocrinology|November 28, 2018
Germline and somatic mosaicism in a family with multiple endocrine neoplasia type 1 (MEN1) syndromeHanneke J B H Beijers, Nike M L Stikkelbroeck, Arjen R Mensenkamp, et al.
NPJ Genomic Medicine|August 16, 2018
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odysseyChristopher Cy Mak, Gordon Kc Leung, Gary Tk Mok, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypesCharlotte Snijders Blok, Nicole Corsten-Janssen, David R FitzPatrick, et al.
European Journal of Human Genetics : EJHG|December 30, 2010
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathyPaulien Smits, Ann Saada, Saskia B Wortmann, et al.
Developmental Medicine and Child Neurology|May 11, 2007
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed developmentSascha Vermeer, David A Koolen, Gepke Visser, et al.
Pageof 29