PHIP variants associated with Chung– Jansen syndrome disrupt replication fork stability and genome integrity.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 5, p. 1, doi. 10.1101/mcs.a006212
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- Publication type:
- Article
Works matching IS 23732873 AND DT 2022 AND VI 8 AND IP 5
Results: 7
1
2
Detection of a GLIS3 fusion in an infant with AML refractory to chemotherapy.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 5, p. 1, doi. 10.1101/mcs.a006220
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- Publication type:
- Article
3
Case report: EWSR1-TFCP2 in an adolescent represents an extremely rare and aggressive form of intraosseous spindle cell rhabdomyosarcomas.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 5, p. 1, doi. 10.1101/mcs.a006209
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- Publication type:
- Article
4
A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 5, p. 1, doi. 10.1101/mcs.a006221
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- Publication type:
- Article
5
A novel pathogenic CDH3 variant underlying heredity hypotrichosis simplex detected by whole-exome sequencing (WES)—a case report.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 5, p. 1, doi. 10.1101/mcs.a006225
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- Publication type:
- Article
6
Genomic surveillance of SARS-CoV-2 during the first year of the pandemic in the Bronx enabled clinical and epidemiological inference.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 5, p. 1, doi. 10.1101/mcs.a006211
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- Publication type:
- Article
7
Exon skipping in genes encoding lineage-defining myogenic transcription factors in rhabdomyosarcoma.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 5, p. 1, doi. 10.1101/mcs.a006190
- By:
- Publication type:
- Article