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Cold Spring Harbor molecular case studies

Showing results (211-220 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|July 21, 2022
PHIP variants associated with Chung-Jansen syndrome disrupt replication fork stability and genome integrityNeysha Tirado-Class, Caitlin Hathaway, Wendy K Chung, et al.
Cold Spring Harbor Molecular Case Studies|May 25, 2023
Perinatal-lethal nonimmune fetal hydrops attributed to <i>MECOM</i>-associated bone marrow failureCamille A Dash, Jill A Madden, Christy Cummings, et al.
Cold Spring Harbor Molecular Case Studies|March 24, 2023
Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in <i>P3H1</i>-further expansion of the phenotypic spectrumKristen A Mikhail, Elizabeth VanSickle, Linda Z Rossetti
Cold Spring Harbor Molecular Case Studies|August 25, 2021
Mechanisms of targeted therapy resistance in a pediatric glioma driven by <i>ETV6-NTRK3</i> fusionClare Keddy, Tanaya Neff, Jianya Huan, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
A recurrent de novo <i>HSPD1</i> variant is associated with hypomyelinating leukodystrophyCagla Cömert, Lauren Brick, Debbie Ang, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Early-onset cerebellar ataxia in a patient with CMT2A2Ricardo Madrid, Sara R Guariglia, Andrea Haworth, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Early-onset Wilson disease caused by <i>ATP7B</i> exon skipping associated with intronic variantDaniel C Koboldt, Scott E Hickey, Bimal P Chaudhari, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
A novel mosaic variant on <i>SMC1A</i> reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentationAixa Gonzalez Garcia, Julia Malone, Hong Li
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Pediatric genetics: rare is commonChris Gunter, Wendy K Chung
Cold Spring Harbor Molecular Case Studies|August 13, 2022
A Novel Pathogenic CDH3 Variant underlying Heredity Hypotrichosis Simplex detected by Whole-Exome Sequencing (WES)-A Case ReportAyat Kadhi, Lamiaa Hamie, Christel Tamer, et al.
Pageof 48

Showing results (211-220 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|July 21, 2022
PHIP variants associated with Chung-Jansen syndrome disrupt replication fork stability and genome integrityNeysha Tirado-Class, Caitlin Hathaway, Wendy K Chung, et al.
Cold Spring Harbor Molecular Case Studies|May 25, 2023
Perinatal-lethal nonimmune fetal hydrops attributed to <i>MECOM</i>-associated bone marrow failureCamille A Dash, Jill A Madden, Christy Cummings, et al.
Cold Spring Harbor Molecular Case Studies|March 24, 2023
Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in <i>P3H1</i>-further expansion of the phenotypic spectrumKristen A Mikhail, Elizabeth VanSickle, Linda Z Rossetti
Cold Spring Harbor Molecular Case Studies|August 25, 2021
Mechanisms of targeted therapy resistance in a pediatric glioma driven by <i>ETV6-NTRK3</i> fusionClare Keddy, Tanaya Neff, Jianya Huan, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
A recurrent de novo <i>HSPD1</i> variant is associated with hypomyelinating leukodystrophyCagla Cömert, Lauren Brick, Debbie Ang, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Early-onset cerebellar ataxia in a patient with CMT2A2Ricardo Madrid, Sara R Guariglia, Andrea Haworth, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Early-onset Wilson disease caused by <i>ATP7B</i> exon skipping associated with intronic variantDaniel C Koboldt, Scott E Hickey, Bimal P Chaudhari, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
A novel mosaic variant on <i>SMC1A</i> reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentationAixa Gonzalez Garcia, Julia Malone, Hong Li
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Pediatric genetics: rare is commonChris Gunter, Wendy K Chung
Cold Spring Harbor Molecular Case Studies|August 13, 2022
A Novel Pathogenic CDH3 Variant underlying Heredity Hypotrichosis Simplex detected by Whole-Exome Sequencing (WES)-A Case ReportAyat Kadhi, Lamiaa Hamie, Christel Tamer, et al.
Pageof 48