A novel variant of CDK19 causes a severe neurodevelopmental disorder with infantile spasms.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 2, p. 1, doi. 10.1101/mcs.a006082
- By:
- Publication type:
- Article
Works matching IS 23732873 AND DT 2021 AND VI 7 AND IP 2
Results: 8
1
2
Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 2, p. 1, doi. 10.1101/mcs.a005751
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- Publication type:
- Article
3
Long-term survival of an ovarian cancer patient harboring a RAD51C missense mutation.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 2, p. 1, doi. 10.1101/mcs.a006083
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- Publication type:
- Article
4
Assessing acquired resistance to IDH1 inhibitor therapy by full-exon IDH1 sequencing and structural modeling.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 2, p. 1, doi. 10.1101/mcs.a006007
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- Publication type:
- Article
5
Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 2, p. 1, doi. 10.1101/mcs.a006023
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- Publication type:
- Article
6
Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 2, p. 1, doi. 10.1101/mcs.a005975
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- Publication type:
- Article
7
The gut microbiome: a missing link in understanding the gastrointestinal manifestations of COVID-19?
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 2, p. 1, doi. 10.1101/mcs.a006031
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- Publication type:
- Article
8
Blood cancer health disparities in the United States Hispanic population.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 2, p. 1, doi. 10.1101/mcs.a005967
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- Publication type:
- Article