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Cold Spring Harbor molecular case studies

Showing results (201-210 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|May 11, 2017
Identification of a novel <i>RASD1</i> somatic mutation in a <i>USP8</i>-mutated corticotroph adenomaAndrew V Uzilov, Khadeen C Cheesman, Marc Y Fink, et al.
Cold Spring Harbor Molecular Case Studies|August 3, 2018
Germline <i>SDHA</i> mutations in children and adults with cancerMarianne Dubard Gault, Diana Mandelker, Deborah DeLair, et al.
Cold Spring Harbor Molecular Case Studies|July 5, 2018
Further evidence for the involvement of <i>EFL1</i> in a Shwachman-Diamond-like syndrome and expansion of the phenotypic featuresQueenie K-G Tan, Heidi Cope, Rebecca C Spillmann, et al.
Cold Spring Harbor Molecular Case Studies|September 15, 2016
Evolution of a FLT3-TKD mutated subclone at meningeal relapse in acute promyelocytic leukemiaTilmann Bochtler, Stefan Fröhling, Wilko Weichert, et al.
Cold Spring Harbor Molecular Case Studies|June 21, 2017
<i>ALPK3</i> gene mutation in a patient with congenital cardiomyopathy and dysmorphic featuresAhmet Okay Çağlayan, Rabia Gonul Sezer, Hande Kaymakçalan, et al.
Cold Spring Harbor Molecular Case Studies|April 4, 2018
Precision oncogenomics in pediatrics: a personal reflectionCindy Campbell, Jeffrey P Greenfield
Cold Spring Harbor Molecular Case Studies|July 12, 2017
Compound heterozygous <i>SLC19A3</i> mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia diseaseWhitney Whitford, Isobel Hawkins, Emma Glamuzina, et al.
Cold Spring Harbor Molecular Case Studies|June 17, 2018
Clinical response of the novel activating ALK-I1171T mutation in neuroblastoma to the ALK inhibitor ceritinibJikui Guan, Susanne Fransson, Joachim Tetteh Siaw, et al.
Cold Spring Harbor Molecular Case Studies|June 16, 2018
De novo <i>MYH9</i> mutation in congenital scalp hemangiomaElena I Fomchenko, Daniel Duran, Sheng Chih Jin, et al.
Cold Spring Harbor Molecular Case Studies|June 28, 2018
Reclassification of the <i>BRAF</i> p.Ile208Val variant by case-level data sharingAndrew R Grant, Sarah E Hemphill, Lisa M Vincent, et al.
Pageof 48

Showing results (201-210 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|May 11, 2017
Identification of a novel <i>RASD1</i> somatic mutation in a <i>USP8</i>-mutated corticotroph adenomaAndrew V Uzilov, Khadeen C Cheesman, Marc Y Fink, et al.
Cold Spring Harbor Molecular Case Studies|August 3, 2018
Germline <i>SDHA</i> mutations in children and adults with cancerMarianne Dubard Gault, Diana Mandelker, Deborah DeLair, et al.
Cold Spring Harbor Molecular Case Studies|July 5, 2018
Further evidence for the involvement of <i>EFL1</i> in a Shwachman-Diamond-like syndrome and expansion of the phenotypic featuresQueenie K-G Tan, Heidi Cope, Rebecca C Spillmann, et al.
Cold Spring Harbor Molecular Case Studies|September 15, 2016
Evolution of a FLT3-TKD mutated subclone at meningeal relapse in acute promyelocytic leukemiaTilmann Bochtler, Stefan Fröhling, Wilko Weichert, et al.
Cold Spring Harbor Molecular Case Studies|June 21, 2017
<i>ALPK3</i> gene mutation in a patient with congenital cardiomyopathy and dysmorphic featuresAhmet Okay Çağlayan, Rabia Gonul Sezer, Hande Kaymakçalan, et al.
Cold Spring Harbor Molecular Case Studies|April 4, 2018
Precision oncogenomics in pediatrics: a personal reflectionCindy Campbell, Jeffrey P Greenfield
Cold Spring Harbor Molecular Case Studies|July 12, 2017
Compound heterozygous <i>SLC19A3</i> mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia diseaseWhitney Whitford, Isobel Hawkins, Emma Glamuzina, et al.
Cold Spring Harbor Molecular Case Studies|June 17, 2018
Clinical response of the novel activating ALK-I1171T mutation in neuroblastoma to the ALK inhibitor ceritinibJikui Guan, Susanne Fransson, Joachim Tetteh Siaw, et al.
Cold Spring Harbor Molecular Case Studies|June 16, 2018
De novo <i>MYH9</i> mutation in congenital scalp hemangiomaElena I Fomchenko, Daniel Duran, Sheng Chih Jin, et al.
Cold Spring Harbor Molecular Case Studies|June 28, 2018
Reclassification of the <i>BRAF</i> p.Ile208Val variant by case-level data sharingAndrew R Grant, Sarah E Hemphill, Lisa M Vincent, et al.
Pageof 48