Found: 18
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The importance of escalating molecular diagnostics in patients with low-grade pediatric brain cancer.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006275
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- Article
Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006291
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- Article
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.
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- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006319
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- Article
PD-L1<sup>+</sup> diffuse large B-cell lymphoma with extremely high mutational burden and microsatellite instability due to acquired PMS2 mutation.
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- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006318
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- Article
Health supervision for children and adolescents with 16p11.2 deletion syndrome.
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- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006316
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- Article
Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006295
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- Article
Prostate cancer patient stratification by molecular signatures in the Veterans Precision Oncology Data Commons.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006298
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- Article
Novel pathogenic PDX1 gene variant in a Korean family with maturity-onset diabetes of the young.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006305
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- Publication type:
- Article
Leukemic presentation and progressive genomic alterations of MCD/C5 diffuse large B-cell lymphoma (DLBCL).
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006283
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- Article
ITPR1-associated spinocerebellar ataxia with craniofacial features--additional evidence for germline mosaicism.
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- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006303
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- Article
Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia vera.
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- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006313
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- Article
Clinical and functional analysis of the germline TP53 p.K164E acetylation site variant.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006290
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- Article
Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system.
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- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006294
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- Article
Deep molecular tracking over the 12-yr development of endometrial cancer from hyperplasia in a single patient.
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- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006311
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- Article
Pazopanib elicits remarkable response in metastatic porocarcinoma: a functional precision medicine approach.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006308
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- Publication type:
- Article
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006293
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- Publication type:
- Article
Synchronous T-lymphoblastic lymphoma and neuroblastoma in a 3-yr-old with novel germline SMARCA4 and EZH2 variants.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006286
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- Publication type:
- Article
Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006292
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- Publication type:
- Article