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Jennifer Goldstein

Showing results (11-20 of 32) with videos related to

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Journal of the American Academy of Dermatology|June 20, 2006
Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridizationLuis M Franco, Jennifer Goldstein, Neil S Prose, et al.
The Journal of Molecular Diagnostics : JMD|July 23, 2004
Association of platelet-derived growth factor receptor alpha mutations with gastric primary site and epithelioid or mixed cell morphology in gastrointestinal stromal tumorsEva Wardelmann, Aksana Hrychyk, Sabine Merkelbach-Bruse, et al.
Cell Genomics|June 27, 2022
Lumping versus splitting: How to approach defining a disease to enable accurate genomic curationCourtney Thaxton, Jennifer Goldstein, Marina DiStefano, et al.
Pediatric Research|April 28, 2016
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challengeQiong Xu, Jennifer Goldstein, Ping Wang, et al.
Human Molecular Genetics|November 5, 2013
Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disordersLi Zhu, Xiaoming Wang, Xin-Lei Li, et al.
Molecular Genetics and Metabolism|May 26, 2023
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclatureShruthi Mohan, Megan Mayers, Meredith Weaver, et al.
The Journal of Molecular Diagnostics : JMD|July 24, 2025
Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic MedicineAlexa Dickson, Kelsey R Cone, Barbara K Fortini, et al.
Molecular Genetics and Metabolism|March 7, 2024
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromesJennifer Goldstein, Amanda Thomas-Wilson, Emily Groopman, et al.
Journal of Toxicology and Environmental Health. Part B, Critical Reviews|May 26, 2009
Human exposure to selected animal neurocarcinogens: a biomarker-based assessment and implications for brain tumor epidemiologyDora Il'yasova, Bridget J McCarthy, Serap Erdal, et al.
Breast Cancer Research and Treatment|October 5, 2013
AMG 900, pan-Aurora kinase inhibitor, preferentially inhibits the proliferation of breast cancer cell lines with dysfunctional p53Ondrej Kalous, Dylan Conklin, Amrita J Desai, et al.
Pageof 4

Showing results (11-20 of 32) with videos related to

Sort By:
Pageof 4
Journal of the American Academy of Dermatology|June 20, 2006
Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridizationLuis M Franco, Jennifer Goldstein, Neil S Prose, et al.
The Journal of Molecular Diagnostics : JMD|July 23, 2004
Association of platelet-derived growth factor receptor alpha mutations with gastric primary site and epithelioid or mixed cell morphology in gastrointestinal stromal tumorsEva Wardelmann, Aksana Hrychyk, Sabine Merkelbach-Bruse, et al.
Cell Genomics|June 27, 2022
Lumping versus splitting: How to approach defining a disease to enable accurate genomic curationCourtney Thaxton, Jennifer Goldstein, Marina DiStefano, et al.
Pediatric Research|April 28, 2016
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challengeQiong Xu, Jennifer Goldstein, Ping Wang, et al.
Human Molecular Genetics|November 5, 2013
Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disordersLi Zhu, Xiaoming Wang, Xin-Lei Li, et al.
Molecular Genetics and Metabolism|May 26, 2023
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclatureShruthi Mohan, Megan Mayers, Meredith Weaver, et al.
The Journal of Molecular Diagnostics : JMD|July 24, 2025
Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic MedicineAlexa Dickson, Kelsey R Cone, Barbara K Fortini, et al.
Molecular Genetics and Metabolism|March 7, 2024
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromesJennifer Goldstein, Amanda Thomas-Wilson, Emily Groopman, et al.
Journal of Toxicology and Environmental Health. Part B, Critical Reviews|May 26, 2009
Human exposure to selected animal neurocarcinogens: a biomarker-based assessment and implications for brain tumor epidemiologyDora Il'yasova, Bridget J McCarthy, Serap Erdal, et al.
Breast Cancer Research and Treatment|October 5, 2013
AMG 900, pan-Aurora kinase inhibitor, preferentially inhibits the proliferation of breast cancer cell lines with dysfunctional p53Ondrej Kalous, Dylan Conklin, Amrita J Desai, et al.
Pageof 4