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Cold Spring Harbor molecular case studies

Showing results (431-440 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|June 5, 2019
Targeting SLMAP-ALK-a novel gene fusion in lung adenocarcinomaCarlos Pagan, Subit Barua, Susan J Hsiao, et al.
Cold Spring Harbor Molecular Case Studies|June 5, 2019
A case of Coffin-Siris syndrome with severe congenital heart disease and a novel <i>SMARCA4</i> variantNikita R Dsouza, Michael T Zimmermann, Gabrielle C Geddes
Cold Spring Harbor Molecular Case Studies|June 8, 2019
De novo loss-of-function variants in <i>NSD2</i> (<i>WHSC1</i>) associate with a subset of Wolf-Hirschhorn syndromeElizabeth S Barrie, Maria P Alfaro, Ruthann B Pfau, et al.
Cold Spring Harbor Molecular Case Studies|October 3, 2018
Biallelic variants in <i>VARS</i> in a family with two siblings with intellectual disability and microcephaly: case report and review of the literatureVolkan Okur, Mythily Ganapathi, Ashley Wilson, et al.
Cold Spring Harbor Molecular Case Studies|October 3, 2018
Rapid communication of efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharingHeidi Rehm
Cold Spring Harbor Molecular Case Studies|April 24, 2019
Urothelial carcinoma with an <i>NRF1-BRAF</i> rearrangement and response to targeted therapyAlexandra L Isaacson, Natalya V Guseva, Aaron D Bossler, et al.
Cold Spring Harbor Molecular Case Studies|April 24, 2019
Homozygous noncanonical splice variant in <i>LSM1</i> in two siblings with multiple congenital anomalies and global developmental delayVolkan Okur, Charles A LeDuc, Edwin Guzman, et al.
Cold Spring Harbor Molecular Case Studies|March 25, 2022
Personalized medicine for rare neurogenetic disorders: can we make it happen?Agnies M van Eeghen, Hilgo Bruining, Nicole I Wolf, et al.
Cold Spring Harbor Molecular Case Studies|March 2, 2019
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the <i>AARS2</i> gene: further delineation of the phenotypic spectrumCatherine Kiraly-Borri, Gareth Jevon, Weizhen Ji, et al.
Cold Spring Harbor Molecular Case Studies|June 29, 2017
Germline <i>BRCA2</i> mutations detected in pediatric sequencing studies impact parents' evaluation and careMichael F Walsh, Jennifer Kennedy, Megan Harlan, et al.
Pageof 48

Showing results (431-440 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|June 5, 2019
Targeting SLMAP-ALK-a novel gene fusion in lung adenocarcinomaCarlos Pagan, Subit Barua, Susan J Hsiao, et al.
Cold Spring Harbor Molecular Case Studies|June 5, 2019
A case of Coffin-Siris syndrome with severe congenital heart disease and a novel <i>SMARCA4</i> variantNikita R Dsouza, Michael T Zimmermann, Gabrielle C Geddes
Cold Spring Harbor Molecular Case Studies|June 8, 2019
De novo loss-of-function variants in <i>NSD2</i> (<i>WHSC1</i>) associate with a subset of Wolf-Hirschhorn syndromeElizabeth S Barrie, Maria P Alfaro, Ruthann B Pfau, et al.
Cold Spring Harbor Molecular Case Studies|October 3, 2018
Biallelic variants in <i>VARS</i> in a family with two siblings with intellectual disability and microcephaly: case report and review of the literatureVolkan Okur, Mythily Ganapathi, Ashley Wilson, et al.
Cold Spring Harbor Molecular Case Studies|October 3, 2018
Rapid communication of efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharingHeidi Rehm
Cold Spring Harbor Molecular Case Studies|April 24, 2019
Urothelial carcinoma with an <i>NRF1-BRAF</i> rearrangement and response to targeted therapyAlexandra L Isaacson, Natalya V Guseva, Aaron D Bossler, et al.
Cold Spring Harbor Molecular Case Studies|April 24, 2019
Homozygous noncanonical splice variant in <i>LSM1</i> in two siblings with multiple congenital anomalies and global developmental delayVolkan Okur, Charles A LeDuc, Edwin Guzman, et al.
Cold Spring Harbor Molecular Case Studies|March 25, 2022
Personalized medicine for rare neurogenetic disorders: can we make it happen?Agnies M van Eeghen, Hilgo Bruining, Nicole I Wolf, et al.
Cold Spring Harbor Molecular Case Studies|March 2, 2019
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the <i>AARS2</i> gene: further delineation of the phenotypic spectrumCatherine Kiraly-Borri, Gareth Jevon, Weizhen Ji, et al.
Cold Spring Harbor Molecular Case Studies|June 29, 2017
Germline <i>BRCA2</i> mutations detected in pediatric sequencing studies impact parents' evaluation and careMichael F Walsh, Jennifer Kennedy, Megan Harlan, et al.
Pageof 48