Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Guy Froyen

Showing results (31-40 of 77) with videos related to

Pageof 8
Sort By:
American Journal of Medical Genetics. Part A|November 12, 2005
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndromeFernanda Sarquis Jehee, Carla Rosenberg, Ana Cristina Krepischi-Santos, et al.
European Journal of Human Genetics : EJHG|June 21, 2007
Partial duplications of the ATRX gene cause the ATR-X syndromeBernard Thienpont, Thomy de Ravel, Hilde Van Esch, 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.
Cancers|February 25, 2022
The Dynamics of Nucleotide Variants in the Progression from Low-Intermediate Myeloma Precursor Conditions to Multiple Myeloma: Studying Serial Samples with a Targeted Sequencing ApproachBénedith Oben, Charlotte Cosemans, Ellen Geerdens, et al.
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|January 19, 2010
Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplicationsOliver Bartsch, Konstanze Gebauer, Stanislav Lechno, 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.
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.
Pageof 8

Showing results (31-40 of 77) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics. Part A|November 12, 2005
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndromeFernanda Sarquis Jehee, Carla Rosenberg, Ana Cristina Krepischi-Santos, et al.
European Journal of Human Genetics : EJHG|June 21, 2007
Partial duplications of the ATRX gene cause the ATR-X syndromeBernard Thienpont, Thomy de Ravel, Hilde Van Esch, 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.
Cancers|February 25, 2022
The Dynamics of Nucleotide Variants in the Progression from Low-Intermediate Myeloma Precursor Conditions to Multiple Myeloma: Studying Serial Samples with a Targeted Sequencing ApproachBénedith Oben, Charlotte Cosemans, Ellen Geerdens, et al.
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|January 19, 2010
Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplicationsOliver Bartsch, Konstanze Gebauer, Stanislav Lechno, 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.
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.
Pageof 8