Subject
Editions published in Cold Spring Harbor molecular case studies 200
Too many entities requested (325). Only 200 are displayed.
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Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis
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Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092)
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Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system
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Undifferentiated small round cell sarcoma in a young male: a case report
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Expanding the phenotypic spectrum in RDH12-associated retinal disease
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Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65
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Integrative genomic analysis of peritoneal malignant mesothelioma: understanding a case with extraordinary chemotherapy response
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Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2
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Clinical outcomes after whole-genome sequencing in patients with metastatic non-small-cell lung cancer
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Mutations in and in a patient with early-onset epileptic encephalopathy and respiratory depression
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A newly identified mutation in the gene is associated with a milder form of Zellweger spectrum disorder
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Refractory and metastatic infantile fibrosarcoma harboring fusion shows complete and durable response to crizotinib
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Hematologic malignancies and Li-Fraumeni syndrome
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Personalized prescription of imatinib in recurrent granulosa cell tumor of the ovary: case report.
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Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases.
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Pharmacogenomic considerations for antiplatelet agents: the era of precision medicine in stroke prevention and neurointerventional practice.
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Exceptional responders with invasive mucinous adenocarcinomas: a phase 2 trial of bortezomib in patients with KRAS G12D-mutant lung cancers.
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Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor.
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A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders.
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Identification of a secondary RET mutation in a pediatric patient with relapsed acute myeloid leukemia leads to the diagnosis and treatment of asymptomatic metastatic medullary thyroid cancer in a parent: a case for sequencing the germline.
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Elucidating a false-negative MYC break-apart fluorescence in situ hybridization probe study by next-generation sequencing in a patient with high-grade B-cell lymphoma with IGH/MYC and IGH/BCL2 rearrangements.
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Detection of a cryptic NUP214/ABL1 gene fusion by mate-pair sequencing (MPseq) in a newly diagnosed case of pediatric T-lymphoblastic leukemia.
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Implementation of cancer next-generation sequencing testing in a community hospital.
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Precision oncogenomics.
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Late-onset pattern macular dystrophy mimicking ABCA4 and PRPH2 disease is caused by a homozygous frameshift mutation in ROM1.
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Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.
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A case study of a long-term glioblastoma survivor with unmethylated MGMT and hypermutated genotype.
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De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.
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Genomic characterization of a well-differentiated grade 3 pancreatic neuroendocrine tumor.
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Response to olaparib in a PALB2 germline mutated prostate cancer and genetic events associated with resistance.
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Circulating tumor DNA dynamics using patient-customized assays are associated with outcome in neoadjuvantly treated breast cancer.
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Urothelial carcinoma with an NRF1-BRAF rearrangement and response to targeted therapy
Subject - wd:Q27726567