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Cold Spring Harbor Molecular Case Studies
|
September 15, 2016
Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle
Frank Y Lin, Katie Bergstrom, Richard Person, et al.
Cold Spring Harbor Molecular Case Studies
|
June 28, 2017
Identification of a novel mutation in the <i>APTX</i> gene associated with ataxia-oculomotor apraxia
Jingga Inlora, M Reza Sailani, Hamidreza Khodadadi, et al.
Cold Spring Harbor Molecular Case Studies
|
May 11, 2017
Diffuse large B-cell lymphoma: can genomics improve treatment options for a curable cancer?
Amit Dipak Amin, Tara L Peters, Lingxiao Li, et al.
Cold Spring Harbor Molecular Case Studies
|
April 4, 2018
Exceptional response to everolimus in a novel tuberous sclerosis complex-2 mutation-associated metastatic renal-cell carcinoma
Samer Alsidawi, Pashtoon Murtaza Kasi
Cold Spring Harbor Molecular Case Studies
|
April 4, 2018
<i>FGFR1</i> tyrosine kinase domain duplication in pilocytic astrocytoma with anaplasia
Leomar Y Ballester, Marta Penas-Prado, Norman E Leeds, et al.
Cold Spring Harbor Molecular Case Studies
|
April 4, 2018
Genomic profiling of dedifferentiated liposarcoma compared to matched well-differentiated liposarcoma reveals higher genomic complexity and a common origin
Hannah C Beird, Chia-Chin Wu, Davis R Ingram, et al.
Cold Spring Harbor Molecular Case Studies
|
July 7, 2017
Compound heterozygous alterations in intraflagellar transport protein <i>CLUAP1</i> in a child with a novel Joubert and oral-facial-digital overlap syndrome
Jennifer J Johnston, Chanjae Lee, Ingrid M Wentzensen, et al.
Cold Spring Harbor Molecular Case Studies
|
July 7, 2017
Two different, mutually exclusively distributed, <i>TP53</i> mutations in ovarian and peritoneal tumor tissues of a serous ovarian cancer patient: indicative for tumor origin?
Nyamdelger Sukhbaatar, Anna Bachmayr-Heyda, Katharina Auer, et al.
Cold Spring Harbor Molecular Case Studies
|
July 2, 2017
Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia
Orna Steinberg-Shemer, Jacob C Ulirsch, Sharon Noy-Lotan, et al.
Cold Spring Harbor Molecular Case Studies
|
June 3, 2018
17p13.3 quadruplication: a prenatal and postpartum clinical characterization of a copy number variant
Nicholas Farris, Helena Wu, Sara Said-Delgado, et al.
Page
of 48
Search research articles
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Showing results (261-270 of 479) with videos related to
Sort By:
Page
of 48
Cold Spring Harbor Molecular Case Studies
|
September 15, 2016
Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle
Frank Y Lin, Katie Bergstrom, Richard Person, et al.
Cold Spring Harbor Molecular Case Studies
|
June 28, 2017
Identification of a novel mutation in the <i>APTX</i> gene associated with ataxia-oculomotor apraxia
Jingga Inlora, M Reza Sailani, Hamidreza Khodadadi, et al.
Cold Spring Harbor Molecular Case Studies
|
May 11, 2017
Diffuse large B-cell lymphoma: can genomics improve treatment options for a curable cancer?
Amit Dipak Amin, Tara L Peters, Lingxiao Li, et al.
Cold Spring Harbor Molecular Case Studies
|
April 4, 2018
Exceptional response to everolimus in a novel tuberous sclerosis complex-2 mutation-associated metastatic renal-cell carcinoma
Samer Alsidawi, Pashtoon Murtaza Kasi
Cold Spring Harbor Molecular Case Studies
|
April 4, 2018
<i>FGFR1</i> tyrosine kinase domain duplication in pilocytic astrocytoma with anaplasia
Leomar Y Ballester, Marta Penas-Prado, Norman E Leeds, et al.
Cold Spring Harbor Molecular Case Studies
|
April 4, 2018
Genomic profiling of dedifferentiated liposarcoma compared to matched well-differentiated liposarcoma reveals higher genomic complexity and a common origin
Hannah C Beird, Chia-Chin Wu, Davis R Ingram, et al.
Cold Spring Harbor Molecular Case Studies
|
July 7, 2017
Compound heterozygous alterations in intraflagellar transport protein <i>CLUAP1</i> in a child with a novel Joubert and oral-facial-digital overlap syndrome
Jennifer J Johnston, Chanjae Lee, Ingrid M Wentzensen, et al.
Cold Spring Harbor Molecular Case Studies
|
July 7, 2017
Two different, mutually exclusively distributed, <i>TP53</i> mutations in ovarian and peritoneal tumor tissues of a serous ovarian cancer patient: indicative for tumor origin?
Nyamdelger Sukhbaatar, Anna Bachmayr-Heyda, Katharina Auer, et al.
Cold Spring Harbor Molecular Case Studies
|
July 2, 2017
Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia
Orna Steinberg-Shemer, Jacob C Ulirsch, Sharon Noy-Lotan, et al.
Cold Spring Harbor Molecular Case Studies
|
June 3, 2018
17p13.3 quadruplication: a prenatal and postpartum clinical characterization of a copy number variant
Nicholas Farris, Helena Wu, Sara Said-Delgado, et al.
Page
of 48