Found: 12
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Dual inhibition of BRAF and mTOR in BRAF<sup>V600E</sup>-mutant pediatric, adolescent, and young adult brain tumors.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005041
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- Article
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005165
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- Article
Reciprocal skeletal phenotypes of PRC2-related overgrowth and Rubinstein--Taybi syndromes: potential role of H3K27 modifications.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005058
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- Article
Functional genomic analysis identifies drug targetable pathways in invasive and metastatic cutaneous squamous cell carcinoma.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005439
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- Article
TRIM28 congenital predisposition to Wilms' tumor: novel mutations and presentation in a sibling pair.
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- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a004796
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- Article
A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005397
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- Article
Failure of tofacitinib to achieve an objective response in a DDX3X-MLLT10 T-lymphoblastic leukemia with activating JAK3 mutations.
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- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a004994
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- Article
An amino-terminal BRAF deletion accounting for acquired resistance to RAF/EGFR inhibition in colorectal cancer.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005140
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- Publication type:
- Article
Clinical utility of ultra-rapid wholegenome sequencing in an infant with atypical presentation of WT1- associated nephrotic syndrome type 4.
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- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005470
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- Article
Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1.
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- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005256
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- Article
SLC6A1 G443D associated with developmental delay and epilepsy.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005371
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- Publication type:
- Article
Successful BRAF/MEK inhibition in a patient with BRAF<sup>V600E</sup>-mutated extrapancreatic acinar cell carcinoma.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005553
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- Article