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 (391-400 of 475) with videos related to

Pageof 48
Sort By:
Iscience|November 29, 2023
Derived myeloid lineage induced pluripotent stem as a platform to study human C-C chemokine receptor type 5Δ32 homozygotesGuibin Chen, Francesca Calcaterra, Yuchi Ma, et al.
Nature Genetics|August 20, 2002
Mutant deoxynucleotide carrier is associated with congenital microcephalyMarjorie J Rosenberg, Richa Agarwala, Gerard Bouffard, et al.
HGG Advances|January 20, 2022
Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the <i>PIK3CA</i>-related overgrowth spectrumIoannis G Koutlas, Ana-Lia Anbinder, Rana Alshagroud, et al.
American Journal of Medical Genetics. Part A|April 30, 2015
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillanceBianca Russell, Jennifer J Johnston, Leslie G Biesecker, et al.
Human Molecular Genetics|June 14, 2019
A mouse model of Proteus syndromeMarjorie J Lindhurst, Lauren R Brinster, Hannah C Kondolf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 22, 2013
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingRobert C Green, Jonathan S Berg, Wayne W Grody, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 12, 2017
CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingRobert C Green, Jonathan S Berg, Wayne W Grody, et al.
Nature Genetics|March 9, 2004
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCORDavid Ng, Nalin Thakker, Connie M Corcoran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 14, 2019
Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studiesJill O Robinson, Julia Wynn, Barbara Biesecker, et al.
American Journal of Medical Genetics. Part A|May 2, 2013
A de novo GLI3 mutation in a patient with acrocallosal syndromeLeonie Speksnijder, Titia E Cohen-Overbeek, Maarten F C M Knapen, et al.
Pageof 48

Showing results (391-400 of 475) with videos related to

Sort By:
Pageof 48
Iscience|November 29, 2023
Derived myeloid lineage induced pluripotent stem as a platform to study human C-C chemokine receptor type 5Δ32 homozygotesGuibin Chen, Francesca Calcaterra, Yuchi Ma, et al.
Nature Genetics|August 20, 2002
Mutant deoxynucleotide carrier is associated with congenital microcephalyMarjorie J Rosenberg, Richa Agarwala, Gerard Bouffard, et al.
HGG Advances|January 20, 2022
Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the <i>PIK3CA</i>-related overgrowth spectrumIoannis G Koutlas, Ana-Lia Anbinder, Rana Alshagroud, et al.
American Journal of Medical Genetics. Part A|April 30, 2015
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillanceBianca Russell, Jennifer J Johnston, Leslie G Biesecker, et al.
Human Molecular Genetics|June 14, 2019
A mouse model of Proteus syndromeMarjorie J Lindhurst, Lauren R Brinster, Hannah C Kondolf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 22, 2013
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingRobert C Green, Jonathan S Berg, Wayne W Grody, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 12, 2017
CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingRobert C Green, Jonathan S Berg, Wayne W Grody, et al.
Nature Genetics|March 9, 2004
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCORDavid Ng, Nalin Thakker, Connie M Corcoran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 14, 2019
Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studiesJill O Robinson, Julia Wynn, Barbara Biesecker, et al.
American Journal of Medical Genetics. Part A|May 2, 2013
A de novo GLI3 mutation in a patient with acrocallosal syndromeLeonie Speksnijder, Titia E Cohen-Overbeek, Maarten F C M Knapen, et al.
Pageof 48