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Froyen

Showing results (121-130 of 172) with videos related to

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The Journal of Molecular Diagnostics : JMD|September 26, 2009
A new chromosome x exon-specific microarray platform for screening of patients with X-linked disordersStavros Bashiardes, Ludmila Kousoulidou, Hans van Bokhoven, et al.
American Journal of Medical Genetics. Part A|April 17, 2014
Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defectsMarijke Bauters, Suzanna G Frints, Hilde Van Esch, et al.
JAMA Network Open|December 11, 2025
Economic Evaluation of Comprehensive Genomic Profiling in an Advanced Solid Cancer PopulationLucas F van Schaik, Brigitte Maes, Pieter-Jan Volders, et al.
Clinical Genetics|October 30, 2009
Novel PORCN mutations in focal dermal hypoplasiaG Froyen, K Govaerts, H Van Esch, et al.
American Journal of Medical Genetics. Part A|January 19, 2010
Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplicationsOliver Bartsch, Konstanze Gebauer, Stanislav Lechno, et al.
Journal of Medical Genetics|September 3, 2004
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype mapG Van Buggenhout, C Melotte, B Dutta, et al.
Human Mutation|December 21, 2013
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gainsLieselot Vanmarsenille, Maila Giannandrea, Nathalie Fieremans, et al.
Scientific Reports|November 10, 2017
Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disabilityMatthias Bosshard, Rossana Aprigliano, Cristina Gattiker, et al.
Lung Cancer (Amsterdam, Netherlands)|July 8, 2023
Reliability of panel-based mutational signatures for immune-checkpoint-inhibition efficacy prediction in non-small cell lung cancerH C Donker, K Cuppens, G Froyen, et al.
Human Mutation|December 21, 2013
Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethalityStefanie Belet, Nathalie Fieremans, Xuan Yuan, et al.
Pageof 18

Showing results (121-130 of 172) with videos related to

Sort By:
Pageof 18
The Journal of Molecular Diagnostics : JMD|September 26, 2009
A new chromosome x exon-specific microarray platform for screening of patients with X-linked disordersStavros Bashiardes, Ludmila Kousoulidou, Hans van Bokhoven, et al.
American Journal of Medical Genetics. Part A|April 17, 2014
Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defectsMarijke Bauters, Suzanna G Frints, Hilde Van Esch, et al.
JAMA Network Open|December 11, 2025
Economic Evaluation of Comprehensive Genomic Profiling in an Advanced Solid Cancer PopulationLucas F van Schaik, Brigitte Maes, Pieter-Jan Volders, et al.
Clinical Genetics|October 30, 2009
Novel PORCN mutations in focal dermal hypoplasiaG Froyen, K Govaerts, H Van Esch, et al.
American Journal of Medical Genetics. Part A|January 19, 2010
Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplicationsOliver Bartsch, Konstanze Gebauer, Stanislav Lechno, et al.
Journal of Medical Genetics|September 3, 2004
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype mapG Van Buggenhout, C Melotte, B Dutta, et al.
Human Mutation|December 21, 2013
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gainsLieselot Vanmarsenille, Maila Giannandrea, Nathalie Fieremans, et al.
Scientific Reports|November 10, 2017
Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disabilityMatthias Bosshard, Rossana Aprigliano, Cristina Gattiker, et al.
Lung Cancer (Amsterdam, Netherlands)|July 8, 2023
Reliability of panel-based mutational signatures for immune-checkpoint-inhibition efficacy prediction in non-small cell lung cancerH C Donker, K Cuppens, G Froyen, et al.
Human Mutation|December 21, 2013
Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethalityStefanie Belet, Nathalie Fieremans, Xuan Yuan, et al.
Pageof 18