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

Pagnamenta

Showing results (171-180 of 265) with videos related to

Pageof 27
Sort By:
Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.
Journal of Clinical Medicine|September 28, 2023
Determinants of Admission to Critical Care Following Acute Recreational Drug Toxicity: A Euro-DEN Plus StudyRoberta Noseda, Matteo Franchi, Alberto Pagnamenta, et al.
Journal of Thrombosis and Thrombolysis|August 18, 2020
Bleeding prevalence in COVID-19 patients receiving intensive antithrombotic prophylaxisChiara Kessler, Hans Stricker, Daniela Demundo, et al.
Annals of Clinical and Translational Neurology|August 9, 2023
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202AsnStephanie Efthymiou, Luiz E Novis, Georgios Koutsis, et al.
Medicina (Kaunas, Lithuania)|November 27, 2024
Albumin-To-Alkaline Phosphatase Ratio as a New Early Predictive Marker of Axillary Response in Breast Cancer Patients Undergoing Neoadjuvant Chemotherapy: A Pilot StudyRahel Felicia Mirjam Schmidt, Yves Harder, Lorenzo Rossi, et al.
European Journal of Human Genetics : EJHG|February 13, 2014
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairmentFabiola Ceroni, Nuala H Simpson, Clyde Francks, et al.
European Journal of Human Genetics : EJHG|March 23, 2017
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disordersAlistair T Pagnamenta, Yoshiko Murakami, John M Taylor, et al.
Genome Medicine|July 27, 2019
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case seriesJohn Taylor, Jude Craft, Edward Blair, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'Fabiola Ceroni, Nuala H Simpson, Clyde Francks, et al.
Journal of Medical Genetics|November 16, 2021
Variable skeletal phenotypes associated with biallelic variants in <i>PRKG2</i>Alistair T Pagnamenta, Francisca Diaz-Gonzalez, Benito Banos-Pinero, et al.
Pageof 27

Showing results (171-180 of 265) with videos related to

Sort By:
Pageof 27
Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.
Journal of Clinical Medicine|September 28, 2023
Determinants of Admission to Critical Care Following Acute Recreational Drug Toxicity: A Euro-DEN Plus StudyRoberta Noseda, Matteo Franchi, Alberto Pagnamenta, et al.
Journal of Thrombosis and Thrombolysis|August 18, 2020
Bleeding prevalence in COVID-19 patients receiving intensive antithrombotic prophylaxisChiara Kessler, Hans Stricker, Daniela Demundo, et al.
Annals of Clinical and Translational Neurology|August 9, 2023
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202AsnStephanie Efthymiou, Luiz E Novis, Georgios Koutsis, et al.
Medicina (Kaunas, Lithuania)|November 27, 2024
Albumin-To-Alkaline Phosphatase Ratio as a New Early Predictive Marker of Axillary Response in Breast Cancer Patients Undergoing Neoadjuvant Chemotherapy: A Pilot StudyRahel Felicia Mirjam Schmidt, Yves Harder, Lorenzo Rossi, et al.
European Journal of Human Genetics : EJHG|February 13, 2014
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairmentFabiola Ceroni, Nuala H Simpson, Clyde Francks, et al.
European Journal of Human Genetics : EJHG|March 23, 2017
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disordersAlistair T Pagnamenta, Yoshiko Murakami, John M Taylor, et al.
Genome Medicine|July 27, 2019
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case seriesJohn Taylor, Jude Craft, Edward Blair, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'Fabiola Ceroni, Nuala H Simpson, Clyde Francks, et al.
Journal of Medical Genetics|November 16, 2021
Variable skeletal phenotypes associated with biallelic variants in <i>PRKG2</i>Alistair T Pagnamenta, Francisca Diaz-Gonzalez, Benito Banos-Pinero, et al.
Pageof 27