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Cold Spring Harbor molecular case studies

Showing results (401-410 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|August 3, 2019
<i>DNMT3A</i> co-mutation in an <i>IDH1</i>-mutant glioblastomaElena I Fomchenko, E Zeynep Erson-Omay, Amy Zhao, et al.
Cold Spring Harbor Molecular Case Studies|September 30, 2022
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegiaFernando Freua, Mariana Espíndola de Castro Almeida, Paulo Ribeiro Nóbrega, et al.
Cold Spring Harbor Molecular Case Studies|November 5, 2021
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the <i>COL2A1</i> gene in an individual with Pol III-related leukodystrophy and Feingold syndromeKayla J Muirhead, Amanda R Clause, Zinayida Schlachetzki, et al.
Cold Spring Harbor Molecular Case Studies|October 20, 2022
Genetic diagnosis for adult patients at a genetic clinicKitiwan Rojnueangnit, Pimjai Anthanont, Thanitchet Khetkham, et al.
Cold Spring Harbor Molecular Case Studies|August 3, 2021
Case of multifocal glioblastoma with four fusion transcripts of <i>ALK</i>, <i>FGFR2</i>, <i>NTRK2</i>, and <i>NTRK3</i> genes stresses the need for tumor tissue multisampling for transcriptomic analysisAmir Samii, Maxim Sorokin, Souvik Kar, et al.
Cold Spring Harbor Molecular Case Studies|May 14, 2021
Common clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline <i>CHEK2</i> variantAlexandre Bazinet, John Heath, Anne-Sophie Chong, et al.
Cold Spring Harbor Molecular Case Studies|May 22, 2021
Hiding in plain sight: genetic deaf-blindness is not always Usher syndromeGenevieve Medina, Julia Perry, Andrea Oza, et al.
Cold Spring Harbor Molecular Case Studies|April 24, 2020
De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disordersCalvin P Sjaarda, Beatrice Kaiser, Amy J M McNaughton, et al.
Cold Spring Harbor Molecular Case Studies|September 18, 2021
A novel variant in <i>DYNC1H1</i> could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrumAlexios-Fotios A Mentis, Dimitrios Vlachakis, Eleni Papakonstantinou, et al.
Cold Spring Harbor Molecular Case Studies|October 27, 2019
A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorderEileen G Daniels, Marielle Alders, Marco Lezzerini, et al.
Pageof 48

Showing results (401-410 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|August 3, 2019
<i>DNMT3A</i> co-mutation in an <i>IDH1</i>-mutant glioblastomaElena I Fomchenko, E Zeynep Erson-Omay, Amy Zhao, et al.
Cold Spring Harbor Molecular Case Studies|September 30, 2022
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegiaFernando Freua, Mariana Espíndola de Castro Almeida, Paulo Ribeiro Nóbrega, et al.
Cold Spring Harbor Molecular Case Studies|November 5, 2021
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the <i>COL2A1</i> gene in an individual with Pol III-related leukodystrophy and Feingold syndromeKayla J Muirhead, Amanda R Clause, Zinayida Schlachetzki, et al.
Cold Spring Harbor Molecular Case Studies|October 20, 2022
Genetic diagnosis for adult patients at a genetic clinicKitiwan Rojnueangnit, Pimjai Anthanont, Thanitchet Khetkham, et al.
Cold Spring Harbor Molecular Case Studies|August 3, 2021
Case of multifocal glioblastoma with four fusion transcripts of <i>ALK</i>, <i>FGFR2</i>, <i>NTRK2</i>, and <i>NTRK3</i> genes stresses the need for tumor tissue multisampling for transcriptomic analysisAmir Samii, Maxim Sorokin, Souvik Kar, et al.
Cold Spring Harbor Molecular Case Studies|May 14, 2021
Common clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline <i>CHEK2</i> variantAlexandre Bazinet, John Heath, Anne-Sophie Chong, et al.
Cold Spring Harbor Molecular Case Studies|May 22, 2021
Hiding in plain sight: genetic deaf-blindness is not always Usher syndromeGenevieve Medina, Julia Perry, Andrea Oza, et al.
Cold Spring Harbor Molecular Case Studies|April 24, 2020
De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disordersCalvin P Sjaarda, Beatrice Kaiser, Amy J M McNaughton, et al.
Cold Spring Harbor Molecular Case Studies|September 18, 2021
A novel variant in <i>DYNC1H1</i> could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrumAlexios-Fotios A Mentis, Dimitrios Vlachakis, Eleni Papakonstantinou, et al.
Cold Spring Harbor Molecular Case Studies|October 27, 2019
A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorderEileen G Daniels, Marielle Alders, Marco Lezzerini, et al.
Pageof 48