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

G Biesecker

Showing results (371-380 of 475) with videos related to

Pageof 48
Sort By:
The Journal of Investigative Dermatology|July 26, 2013
AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndromeMarjorie J Lindhurst, Ji-An Wang, Hadley M Bloomhardt, et al.
Plos One|June 4, 2014
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disordersDouglas R Stewart, Alexander Pemov, Jennifer J Johnston, et al.
Biorxiv : the Preprint Server for Biology|September 30, 2024
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2025
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
American Journal of Human Genetics|November 22, 2022
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteriaVikas Pejaver, Alicia B Byrne, Bing-Jian Feng, et al.
Clinical Pharmacology and Therapeutics|December 1, 2018
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S GenotypesStephen G Gonsalves, Robert T Dirksen, Katrin Sangkuhl, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 15, 2020
A six-attribute classification of genetic mosaicismVíctor Martínez-Glez, Jair Tenorio, Julián Nevado, et al.
Scientific Data|September 1, 2025
A spatial transcriptomics dataset of pancreas sections in normal glucose tolerance and type 2 diabetic donorsNick Howell, Zoe Weiss, Lori L Bonnycastle, et al.
Journal of the American Medical Informatics Association : JAMIA|December 5, 2013
Integrating pharmacogenetic information and clinical decision support into the electronic health recordBarry R Goldspiel, Willy A Flegel, Gary DiPatrizio, et al.
American Journal of Human Genetics|July 9, 2011
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growthDan Hanson, Philip G Murray, James O'Sullivan, et al.
Pageof 48

Showing results (371-380 of 475) with videos related to

Sort By:
Pageof 48
The Journal of Investigative Dermatology|July 26, 2013
AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndromeMarjorie J Lindhurst, Ji-An Wang, Hadley M Bloomhardt, et al.
Plos One|June 4, 2014
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disordersDouglas R Stewart, Alexander Pemov, Jennifer J Johnston, et al.
Biorxiv : the Preprint Server for Biology|September 30, 2024
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2025
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
American Journal of Human Genetics|November 22, 2022
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteriaVikas Pejaver, Alicia B Byrne, Bing-Jian Feng, et al.
Clinical Pharmacology and Therapeutics|December 1, 2018
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S GenotypesStephen G Gonsalves, Robert T Dirksen, Katrin Sangkuhl, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 15, 2020
A six-attribute classification of genetic mosaicismVíctor Martínez-Glez, Jair Tenorio, Julián Nevado, et al.
Scientific Data|September 1, 2025
A spatial transcriptomics dataset of pancreas sections in normal glucose tolerance and type 2 diabetic donorsNick Howell, Zoe Weiss, Lori L Bonnycastle, et al.
Journal of the American Medical Informatics Association : JAMIA|December 5, 2013
Integrating pharmacogenetic information and clinical decision support into the electronic health recordBarry R Goldspiel, Willy A Flegel, Gary DiPatrizio, et al.
American Journal of Human Genetics|July 9, 2011
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growthDan Hanson, Philip G Murray, James O'Sullivan, et al.
Pageof 48