Works matching IS 23732873 AND DT 2020 AND VI 6 AND IP 6
Results: 11
Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005884
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- Publication type:
- Article
Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005496
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- Publication type:
- Article
Aplastic anemia in a patient with CVID due to NFKB1 haploinsufficiency.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005769
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- Publication type:
- Article
Prolonged survival and response to tepotinib in a non-small-cell lung cancer patient with brain metastases harboring MET exon 14 mutation: a research report.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005785
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- Publication type:
- Article
Case report: 16-yr life history and genomic evolution of an ER<sup>+</sup> HER2<sup>-</sup> breast cancer.
- Published in:
- 2020
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- Publication type:
- Case Study
Treatment response and tumor evolution: lessons from an extended series of multi-analyte liquid biopsies in a metastatic breast cancer patient.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005819
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- Publication type:
- Article
Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005728
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- Publication type:
- Article
Isolated sulfite oxidase deficiency: a founder mutation.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005900
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- Publication type:
- Article
Recurrent SPECC1L-NTRK fusions in pediatric sarcoma and brain tumors.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005710
- Publication type:
- Article
NAA10 variant in 38-week-gestation male patient: a case study.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005868
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- Publication type:
- Article
Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic FANCA variant.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005595
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- Publication type:
- Article