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

S Mancini

Showing results (231-240 of 347) with videos related to

Pageof 35
Sort By:
American Journal of Medical Genetics. Part A|February 4, 2005
Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch familiesG M S Mancini, C E Catsman-Berrevoets, I F M de Coo, et al.
Journal of Applied Microbiology|December 16, 2020
Detection of environmental contamination with feline and canine parvoviruses: new perspectives and challengesM L Marenzoni, M B Conti, E Rossi, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 12, 2019
EML1-associated brain overgrowth syndrome with ribbon-like heterotopiaRenske Oegema, George McGillivray, Richard Leventer, et al.
American Journal of Medical Genetics. Part A|November 6, 2004
Three new families with arterial tortuosity syndromeMarja W Wessels, Coriene E Catsman-Berrevoets, Grazia M S Mancini, et al.
American Journal of Medical Genetics. Part A|April 25, 2013
ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcomeMarije E C Meuwissen, Maarten H Lequin, Karen Bindels-de Heus, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomaliesMax Krall, Stephanie Htun, Rhonda E Schnur, et al.
Neurology|March 2, 2011
Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephalyM E C Meuwissen, L S de Vries, H A Verbeek, et al.
Molecular Genetics and Metabolism|December 20, 2014
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemiaMark Nellist, Rachel Schot, Marianne Hoogeveen-Westerveld, et al.
Development (Cambridge, England)|September 2, 2025
The non-canonical thioreductase Tmx2b is essential for neuronal survival during zebrafish embryonic brain developmentJordy Dekker, Wendy Lam, Herma C van der Linde, et al.
Clinical Genetics|June 10, 2010
Clinical features and X-inactivation in females heterozygous for creatine transporter defectJ M van de Kamp, G M S Mancini, P J W Pouwels, et al.
Pageof 35

Showing results (231-240 of 347) with videos related to

Sort By:
Pageof 35
American Journal of Medical Genetics. Part A|February 4, 2005
Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch familiesG M S Mancini, C E Catsman-Berrevoets, I F M de Coo, et al.
Journal of Applied Microbiology|December 16, 2020
Detection of environmental contamination with feline and canine parvoviruses: new perspectives and challengesM L Marenzoni, M B Conti, E Rossi, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 12, 2019
EML1-associated brain overgrowth syndrome with ribbon-like heterotopiaRenske Oegema, George McGillivray, Richard Leventer, et al.
American Journal of Medical Genetics. Part A|November 6, 2004
Three new families with arterial tortuosity syndromeMarja W Wessels, Coriene E Catsman-Berrevoets, Grazia M S Mancini, et al.
American Journal of Medical Genetics. Part A|April 25, 2013
ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcomeMarije E C Meuwissen, Maarten H Lequin, Karen Bindels-de Heus, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomaliesMax Krall, Stephanie Htun, Rhonda E Schnur, et al.
Neurology|March 2, 2011
Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephalyM E C Meuwissen, L S de Vries, H A Verbeek, et al.
Molecular Genetics and Metabolism|December 20, 2014
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemiaMark Nellist, Rachel Schot, Marianne Hoogeveen-Westerveld, et al.
Development (Cambridge, England)|September 2, 2025
The non-canonical thioreductase Tmx2b is essential for neuronal survival during zebrafish embryonic brain developmentJordy Dekker, Wendy Lam, Herma C van der Linde, et al.
Clinical Genetics|June 10, 2010
Clinical features and X-inactivation in females heterozygous for creatine transporter defectJ M van de Kamp, G M S Mancini, P J W Pouwels, et al.
Pageof 35