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

Paul Kuentz

Showing results (11-20 of 75) with videos related to

Pageof 8
Sort By:
European Journal of Medical Genetics|March 24, 2025
Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case reportBertille Bonniaud, Maxime Luu, Coline Cormier, et al.
American Journal of Medical Genetics. Part A|January 19, 2020
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literatureMirna Assoum, Ange-Line Bruel, Melissa L Crenshaw, et al.
American Journal of Medical Genetics. Part A|February 16, 2023
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literatureDaniah Albokhari, Amanda Barone Pritchard, Adelyn Beil, et al.
Human Mutation|February 18, 2021
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorderLeïla Ghesh, Thomas Besnard, Mathilde Nizon, et al.
Nature Communications|February 18, 2025
A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndromeRana El Masri, Alberto Iannuzzo, Paul Kuentz, et al.
American Journal of Medical Genetics. Part A|November 22, 2016
Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencingAmandine Baurand, Sylvie Falcon-Eicher, Gabriel Laurent, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 23, 2020
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genesGeoffroy Delplancq, Georges Tarris, Antonio Vitobello, et al.
BMJ Open|January 14, 2025
A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocolMaxime Luu, Pierre Vabres, Aurélie Espitalier, et al.
The EMBO Journal|June 3, 2020
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patientsMichele Bertacchi, Anna Lisa Romano, Agnès Loubat, et al.
Andrology|August 26, 2022
Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short statureCéline Capron, Louis Januel, Gaëlle Vieville, et al.
Pageof 8

Showing results (11-20 of 75) with videos related to

Sort By:
Pageof 8
European Journal of Medical Genetics|March 24, 2025
Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case reportBertille Bonniaud, Maxime Luu, Coline Cormier, et al.
American Journal of Medical Genetics. Part A|January 19, 2020
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literatureMirna Assoum, Ange-Line Bruel, Melissa L Crenshaw, et al.
American Journal of Medical Genetics. Part A|February 16, 2023
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literatureDaniah Albokhari, Amanda Barone Pritchard, Adelyn Beil, et al.
Human Mutation|February 18, 2021
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorderLeïla Ghesh, Thomas Besnard, Mathilde Nizon, et al.
Nature Communications|February 18, 2025
A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndromeRana El Masri, Alberto Iannuzzo, Paul Kuentz, et al.
American Journal of Medical Genetics. Part A|November 22, 2016
Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencingAmandine Baurand, Sylvie Falcon-Eicher, Gabriel Laurent, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 23, 2020
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genesGeoffroy Delplancq, Georges Tarris, Antonio Vitobello, et al.
BMJ Open|January 14, 2025
A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocolMaxime Luu, Pierre Vabres, Aurélie Espitalier, et al.
The EMBO Journal|June 3, 2020
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patientsMichele Bertacchi, Anna Lisa Romano, Agnès Loubat, et al.
Andrology|August 26, 2022
Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short statureCéline Capron, Louis Januel, Gaëlle Vieville, et al.
Pageof 8