Found: 8
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WP1066 induces cell death in a schwannomatosis patient-derived schwannoma cell line.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006178
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- Publication type:
- Article
Expanding the phenotype of ATP6AP1 deficiency.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006195
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- Publication type:
- Article
9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006164
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- Publication type:
- Article
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006206
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- Publication type:
- Article
A case of microsatellite instability-high clinically advanced castration-resistant prostate cancer showing a remarkable response to pembrolizumab sustained over at least 18 months.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006194
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- Publication type:
- Article
De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006172
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- Publication type:
- Article
Incidental discovery of acute myeloid leukemia during liquid biopsy of a lung cancer patient.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006201
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- Publication type:
- Article
Identification of a novel pathogenic variant in FBN1 associated with Marfan syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006215
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- Publication type:
- Article