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Cold Spring Harbor molecular case studies

Showing results (391-400 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|October 8, 2020
Helicase-inactivating <i>BRIP1</i> mutation yields Fanconi anemia with microcephaly and other congenital abnormalitiesLara Kamal, Sarah B Pierce, Christina Canavati, et al.
Cold Spring Harbor Molecular Case Studies|January 24, 2020
The tale of two genes: from next-generation sequencing to phenotypeMersedeh Rohanizadegan, Aishwarya Siddharath, Kyle Retterer, et al.
Cold Spring Harbor Molecular Case Studies|October 29, 2020
Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in <i>HSD17B4</i> resulting in D-bifunctional protein deficiency disorder diagnosisLane Savage, Stacie D Adams, Kiely James, et al.
Cold Spring Harbor Molecular Case Studies|December 21, 2017
Late diagnosis of a truncating <i>WISP3</i> mutation entails a severe phenotype of progressive pseudorheumatoid dysplasiaSalem Alawbathani, Amit Kawalia, Mert Karakaya, et al.
Cold Spring Harbor Molecular Case Studies|March 16, 2021
Functional impact of a germline RET mutation in alveolar rhabdomyosarcomaNoah E Berlow, Kenneth A Crawford, Carol J Bult, et al.
Cold Spring Harbor Molecular Case Studies|January 21, 2022
Histological and molecular plasticity of ALK-positive non-small-cell lung cancer under targeted therapy: a case reportMarkus Ball, Petros Christopoulos, Martina Kirchner, et al.
Cold Spring Harbor Molecular Case Studies|February 20, 2021
Treatment-emergent neuroendocrine prostate cancer with a germline <i>BRCA2</i> mutation: identification of a candidate reversion mutation associated with platinum/PARP-inhibitor resistanceDeep Pandya, Myra Shah, Fuat Kaplan, et al.
Cold Spring Harbor Molecular Case Studies|February 20, 2021
Identification of novel, clonally stable, somatic mutations targeting transcription factors PAX5 and NKX2-3, the epigenetic regulator LRIF1, and BRAF in a case of atypical B-cell chronic lymphocytic leukemia harboring a t(14;18)(q32;q21)Bénédicte Burlet, Selim Ramla, Cyril Fournier, et al.
Cold Spring Harbor Molecular Case Studies|August 8, 2019
<i>VAC14</i> syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulationGholson J Lyon, Elaine Marchi, Joseph Ekstein, et al.
Cold Spring Harbor Molecular Case Studies|August 3, 2019
Functional analysis of clinical <i>BARD1</i> germline variantsMing Ren Toh, Siao Ting Chong, Sock Hoai Chan, et al.
Pageof 48

Showing results (391-400 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|October 8, 2020
Helicase-inactivating <i>BRIP1</i> mutation yields Fanconi anemia with microcephaly and other congenital abnormalitiesLara Kamal, Sarah B Pierce, Christina Canavati, et al.
Cold Spring Harbor Molecular Case Studies|January 24, 2020
The tale of two genes: from next-generation sequencing to phenotypeMersedeh Rohanizadegan, Aishwarya Siddharath, Kyle Retterer, et al.
Cold Spring Harbor Molecular Case Studies|October 29, 2020
Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in <i>HSD17B4</i> resulting in D-bifunctional protein deficiency disorder diagnosisLane Savage, Stacie D Adams, Kiely James, et al.
Cold Spring Harbor Molecular Case Studies|December 21, 2017
Late diagnosis of a truncating <i>WISP3</i> mutation entails a severe phenotype of progressive pseudorheumatoid dysplasiaSalem Alawbathani, Amit Kawalia, Mert Karakaya, et al.
Cold Spring Harbor Molecular Case Studies|March 16, 2021
Functional impact of a germline RET mutation in alveolar rhabdomyosarcomaNoah E Berlow, Kenneth A Crawford, Carol J Bult, et al.
Cold Spring Harbor Molecular Case Studies|January 21, 2022
Histological and molecular plasticity of ALK-positive non-small-cell lung cancer under targeted therapy: a case reportMarkus Ball, Petros Christopoulos, Martina Kirchner, et al.
Cold Spring Harbor Molecular Case Studies|February 20, 2021
Treatment-emergent neuroendocrine prostate cancer with a germline <i>BRCA2</i> mutation: identification of a candidate reversion mutation associated with platinum/PARP-inhibitor resistanceDeep Pandya, Myra Shah, Fuat Kaplan, et al.
Cold Spring Harbor Molecular Case Studies|February 20, 2021
Identification of novel, clonally stable, somatic mutations targeting transcription factors PAX5 and NKX2-3, the epigenetic regulator LRIF1, and BRAF in a case of atypical B-cell chronic lymphocytic leukemia harboring a t(14;18)(q32;q21)Bénédicte Burlet, Selim Ramla, Cyril Fournier, et al.
Cold Spring Harbor Molecular Case Studies|August 8, 2019
<i>VAC14</i> syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulationGholson J Lyon, Elaine Marchi, Joseph Ekstein, et al.
Cold Spring Harbor Molecular Case Studies|August 3, 2019
Functional analysis of clinical <i>BARD1</i> germline variantsMing Ren Toh, Siao Ting Chong, Sock Hoai Chan, et al.
Pageof 48