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

Mark J McCabe

Showing results (11-20 of 22) with videos related to

Pageof 3
Sort By:
Molecular and Cellular Endocrinology|September 17, 2015
Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD)Mark J McCabe, Youli Hu, Louise C Gregory, et al.
European Journal of Endocrinology|February 22, 2017
Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumoursSunita M C De Sousa, Mark J McCabe, Kathy Wu, et al.
The Journal of Clinical Endocrinology and Metabolism|February 7, 2013
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasiaMark J McCabe, Carles Gaston-Massuet, Louise C Gregory, et al.
The Journal of Clinical Endocrinology and Metabolism|August 12, 2011
Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunctionMark J McCabe, Carles Gaston-Massuet, Vaitsa Tziaferi, et al.
Genome Biology|May 17, 2023
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applicationsPatricia J Sullivan, Velimir Gayevskiy, Ryan L Davis, et al.
The Journal of Clinical Endocrinology and Metabolism|February 10, 2012
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasiaTaneli Raivio, Magdalena Avbelj, Mark J McCabe, et al.
European Journal of Endocrinology|May 5, 2021
The phenotypic spectrum associated with OTX2 mutations in humansLouise C Gregory, Peter Gergics, Marilena Nakaguma, et al.
Cold Spring Harbor Molecular Case Studies|April 3, 2019
Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastasesMark J McCabe, Mark Pinese, Chia-Ling Chan, et al.
Science (New York, N.Y.)|June 6, 2020
MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancerArcadi Cipponi, David L Goode, Justin Bedo, et al.
Brain : a Journal of Neurology|September 12, 2013
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomaliesEmma A Webb, Angham AlMutair, Daniel Kelberman, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Molecular and Cellular Endocrinology|September 17, 2015
Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD)Mark J McCabe, Youli Hu, Louise C Gregory, et al.
European Journal of Endocrinology|February 22, 2017
Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumoursSunita M C De Sousa, Mark J McCabe, Kathy Wu, et al.
The Journal of Clinical Endocrinology and Metabolism|February 7, 2013
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasiaMark J McCabe, Carles Gaston-Massuet, Louise C Gregory, et al.
The Journal of Clinical Endocrinology and Metabolism|August 12, 2011
Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunctionMark J McCabe, Carles Gaston-Massuet, Vaitsa Tziaferi, et al.
Genome Biology|May 17, 2023
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applicationsPatricia J Sullivan, Velimir Gayevskiy, Ryan L Davis, et al.
The Journal of Clinical Endocrinology and Metabolism|February 10, 2012
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasiaTaneli Raivio, Magdalena Avbelj, Mark J McCabe, et al.
European Journal of Endocrinology|May 5, 2021
The phenotypic spectrum associated with OTX2 mutations in humansLouise C Gregory, Peter Gergics, Marilena Nakaguma, et al.
Cold Spring Harbor Molecular Case Studies|April 3, 2019
Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastasesMark J McCabe, Mark Pinese, Chia-Ling Chan, et al.
Science (New York, N.Y.)|June 6, 2020
MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancerArcadi Cipponi, David L Goode, Justin Bedo, et al.
Brain : a Journal of Neurology|September 12, 2013
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomaliesEmma A Webb, Angham AlMutair, Daniel Kelberman, et al.
Pageof 3