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Cold Spring Harbor Molecular Case Studies
|
May 7, 2020
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience
Cecelia R Miller, Kristy Lee, Ruthann B Pfau, et al.
Genes, Chromosomes & Cancer
|
June 18, 2022
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review
Flavia Watusi De Faria, Kathleen M Schieffer, Christopher R Pierson, et al.
Brain : a Journal of Neurology
|
July 8, 2022
Cerebral organoids containing an AUTS2 missense variant model microcephaly
Summer R Fair, Wesley Schwind, Dominic L Julian, et al.
Ophthalmology
|
February 22, 2020
Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma
Mohamed H Abdel-Rahman, Klarke M Sample, Robert Pilarski, et al.
Neurology. Genetics
|
July 9, 2020
Somatic <i>SLC35A2</i> mosaicism correlates with clinical findings in epilepsy brain tissue
Katherine E Miller, Daniel C Koboldt, Kathleen M Schieffer, et al.
Frontiers in Oncology
|
August 1, 2022
Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement
Katherine E Miller, Gregory Wheeler, Stephanie LaHaye, et al.
The American Journal of Surgical Pathology
|
October 19, 2020
YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas
Kathleen M Schieffer, Vibhuti Agarwal, Stephanie LaHaye, et al.
Genes, Chromosomes & Cancer
|
May 27, 2021
Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence
Selene C Koo, Stephanie LaHaye, Bence P Kovari, et al.
Acta Neuropathologica Communications
|
December 13, 2021
Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas
Margaret Shatara, Kathleen M Schieffer, Darren Klawinski, et al.
Epilepsia
|
June 10, 2022
Detection of brain somatic variation in epilepsy-associated developmental lesions
Tracy A Bedrosian, Katherine E Miller, Olivia E Grischow, et al.
Page
of 30
Search research articles
Search
Showing results (271-280 of 291) with videos related to
Sort By:
Page
of 30
Cold Spring Harbor Molecular Case Studies
|
May 7, 2020
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience
Cecelia R Miller, Kristy Lee, Ruthann B Pfau, et al.
Genes, Chromosomes & Cancer
|
June 18, 2022
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review
Flavia Watusi De Faria, Kathleen M Schieffer, Christopher R Pierson, et al.
Brain : a Journal of Neurology
|
July 8, 2022
Cerebral organoids containing an AUTS2 missense variant model microcephaly
Summer R Fair, Wesley Schwind, Dominic L Julian, et al.
Ophthalmology
|
February 22, 2020
Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma
Mohamed H Abdel-Rahman, Klarke M Sample, Robert Pilarski, et al.
Neurology. Genetics
|
July 9, 2020
Somatic <i>SLC35A2</i> mosaicism correlates with clinical findings in epilepsy brain tissue
Katherine E Miller, Daniel C Koboldt, Kathleen M Schieffer, et al.
Frontiers in Oncology
|
August 1, 2022
Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement
Katherine E Miller, Gregory Wheeler, Stephanie LaHaye, et al.
The American Journal of Surgical Pathology
|
October 19, 2020
YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas
Kathleen M Schieffer, Vibhuti Agarwal, Stephanie LaHaye, et al.
Genes, Chromosomes & Cancer
|
May 27, 2021
Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence
Selene C Koo, Stephanie LaHaye, Bence P Kovari, et al.
Acta Neuropathologica Communications
|
December 13, 2021
Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas
Margaret Shatara, Kathleen M Schieffer, Darren Klawinski, et al.
Epilepsia
|
June 10, 2022
Detection of brain somatic variation in epilepsy-associated developmental lesions
Tracy A Bedrosian, Katherine E Miller, Olivia E Grischow, et al.
Page
of 30