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Szabolcs Szelinger

Showing results (11-20 of 53) with videos related to

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American Journal of Human Genetics|February 7, 2008
Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locusDavid W Craig, Abraham Itty, Corrie Panganiban, et al.
Human Molecular Genetics|May 14, 2013
In vitro-differentiated neural cell cultures progress towards donor-identical brain tissueBrooke E Hjelm, Bodour Salhia, Ahmet Kurdoglu, et al.
Molecular Genetics & Genomic Medicine|January 7, 2022
Progressive cerebellar atrophy caused by heterozygous TECPR2 mutationsKeri Ramsey, Newell Belnap, Anna Bonfitto, et al.
Clinical Genetics|May 8, 2024
FGF12 copy number variant associated with epileptic encephalopathyAnna Abraham, Keri Ramsey, Newell Belnap, et al.
Human Mutation|October 30, 2019
Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegiaCarmel G McCullough, Szabolcs Szelinger, Newell Belnap, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2023
Preparing for the unexpected: Recommendations for returning secondary findings in late-stage cancer careMadeline Currey, Ilana Solomon, Sarah McGraw, et al.
Plos One|December 16, 2014
Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencingSzabolcs Szelinger, Ivana Malenica, Jason J Corneveaux, et al.
Nature Methods|September 17, 2008
Identification of genetic variants using bar-coded multiplexed sequencingDavid W Craig, John V Pearson, Szabolcs Szelinger, et al.
Archives of Pathology & Laboratory Medicine|August 23, 2021
Next-Generation Sequencing Somatic and Germline Assay Troubleshooting Guide Derived From Proficiency Testing DataValentina Nardi, Karen D Tsuchiya, Annette S Kim, et al.
Breast Cancer Research : BCR|January 20, 2026
Characterization of ESR1 alterations in patients with breast and gynecologic cancersGargi D Basu, Paige E Innis, Angela K Deem, et al.
Pageof 6

Showing results (11-20 of 53) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|February 7, 2008
Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locusDavid W Craig, Abraham Itty, Corrie Panganiban, et al.
Human Molecular Genetics|May 14, 2013
In vitro-differentiated neural cell cultures progress towards donor-identical brain tissueBrooke E Hjelm, Bodour Salhia, Ahmet Kurdoglu, et al.
Molecular Genetics & Genomic Medicine|January 7, 2022
Progressive cerebellar atrophy caused by heterozygous TECPR2 mutationsKeri Ramsey, Newell Belnap, Anna Bonfitto, et al.
Clinical Genetics|May 8, 2024
FGF12 copy number variant associated with epileptic encephalopathyAnna Abraham, Keri Ramsey, Newell Belnap, et al.
Human Mutation|October 30, 2019
Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegiaCarmel G McCullough, Szabolcs Szelinger, Newell Belnap, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2023
Preparing for the unexpected: Recommendations for returning secondary findings in late-stage cancer careMadeline Currey, Ilana Solomon, Sarah McGraw, et al.
Plos One|December 16, 2014
Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencingSzabolcs Szelinger, Ivana Malenica, Jason J Corneveaux, et al.
Nature Methods|September 17, 2008
Identification of genetic variants using bar-coded multiplexed sequencingDavid W Craig, John V Pearson, Szabolcs Szelinger, et al.
Archives of Pathology & Laboratory Medicine|August 23, 2021
Next-Generation Sequencing Somatic and Germline Assay Troubleshooting Guide Derived From Proficiency Testing DataValentina Nardi, Karen D Tsuchiya, Annette S Kim, et al.
Breast Cancer Research : BCR|January 20, 2026
Characterization of ESR1 alterations in patients with breast and gynecologic cancersGargi D Basu, Paige E Innis, Angela K Deem, et al.
Pageof 6