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Cold Spring Harbor molecular case studies

Showing results (121-130 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|October 19, 2019
Germline <i>POLE</i> mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiencyHolly Lindsay, Sarah Scollon, Jacquelyn Reuther, et al.
Cold Spring Harbor Molecular Case Studies|October 19, 2019
Biallelic loss of <i>GNAS</i> in a patient with pediatric medulloblastomaMari J Tokita, Shareef Nahas, Benjamin Briggs, et al.
Cold Spring Harbor Molecular Case Studies|April 28, 2022
Computational and experimental methods for classifying variants of unknown clinical significanceMalte Spielmann, Martin Kircher
Cold Spring Harbor Molecular Case Studies|April 28, 2022
The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the <i>PIK3CA</i>-related megalencephaly-capillary malformation (MCAP) syndrome: a case reportWei-Liang Chen, Emily Pao, James Owens, et al.
Cold Spring Harbor Molecular Case Studies|April 28, 2022
Whole-genome and transcriptome analysis of advanced adrenocortical cancer highlights multiple alterations affecting epigenome and DNA repair pathwaysJean-Michel Lavoie, Veronika Csizmok, Laura M Williamson, et al.
Cold Spring Harbor Molecular Case Studies|October 20, 2021
Potential benefit of treatment with MEK inhibitors and chemotherapy in BRAF-mutated KRAS wild-type pancreatic ductal adenocarcinoma patients: a case reportBach Ardalan, Jose Ignacio Azqueta, Jonathan England, et al.
Cold Spring Harbor Molecular Case Studies|October 26, 2021
Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2Kelly A Duffy, Evan R Hathaway, Steven D Klein, et al.
Cold Spring Harbor Molecular Case Studies|September 30, 2021
Somatic <i>IDH1</i> variant (p.R132C) in an adult male with Maffucci syndromeNatasha J Brown, Zimeng Ye, Chloe Stutterd, et al.
Cold Spring Harbor Molecular Case Studies|January 29, 2022
Reanalysis of a novel variant in the <i>IGF1R</i> gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) programAnnalise Jacobs, Catherine Burns, Purva Patel, et al.
Cold Spring Harbor Molecular Case Studies|February 26, 2022
m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndromeJeffrey Jean, Eirini Christodoulou, Xiaowu Gai, et al.
Pageof 48

Showing results (121-130 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|October 19, 2019
Germline <i>POLE</i> mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiencyHolly Lindsay, Sarah Scollon, Jacquelyn Reuther, et al.
Cold Spring Harbor Molecular Case Studies|October 19, 2019
Biallelic loss of <i>GNAS</i> in a patient with pediatric medulloblastomaMari J Tokita, Shareef Nahas, Benjamin Briggs, et al.
Cold Spring Harbor Molecular Case Studies|April 28, 2022
Computational and experimental methods for classifying variants of unknown clinical significanceMalte Spielmann, Martin Kircher
Cold Spring Harbor Molecular Case Studies|April 28, 2022
The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the <i>PIK3CA</i>-related megalencephaly-capillary malformation (MCAP) syndrome: a case reportWei-Liang Chen, Emily Pao, James Owens, et al.
Cold Spring Harbor Molecular Case Studies|April 28, 2022
Whole-genome and transcriptome analysis of advanced adrenocortical cancer highlights multiple alterations affecting epigenome and DNA repair pathwaysJean-Michel Lavoie, Veronika Csizmok, Laura M Williamson, et al.
Cold Spring Harbor Molecular Case Studies|October 20, 2021
Potential benefit of treatment with MEK inhibitors and chemotherapy in BRAF-mutated KRAS wild-type pancreatic ductal adenocarcinoma patients: a case reportBach Ardalan, Jose Ignacio Azqueta, Jonathan England, et al.
Cold Spring Harbor Molecular Case Studies|October 26, 2021
Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2Kelly A Duffy, Evan R Hathaway, Steven D Klein, et al.
Cold Spring Harbor Molecular Case Studies|September 30, 2021
Somatic <i>IDH1</i> variant (p.R132C) in an adult male with Maffucci syndromeNatasha J Brown, Zimeng Ye, Chloe Stutterd, et al.
Cold Spring Harbor Molecular Case Studies|January 29, 2022
Reanalysis of a novel variant in the <i>IGF1R</i> gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) programAnnalise Jacobs, Catherine Burns, Purva Patel, et al.
Cold Spring Harbor Molecular Case Studies|February 26, 2022
m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndromeJeffrey Jean, Eirini Christodoulou, Xiaowu Gai, et al.
Pageof 48