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Primary trimethylaminuria syndrome: more than an unpleasant odor

International journal of dermatology, 2023-03, Vol.62 (3), p.e176-e178

2023

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Familial primary cutaneous amyloidosis: Caspase activation may be involved in amyloid formation

Experimental dermatology, 2022-10, Vol.31 (10), p.1638-1640

2022

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The genetic architecture of adaptations to high altitude in Ethiopia

PLoS genetics, 2012-12, Vol.8 (12), p.e1003110-e1003110

2012

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Human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency

Proceedings of the National Academy of Sciences - PNAS, 2010-05, Vol.107 (Supplement 2), p.8924-8930

2010

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Epitope spreading driven by the joint action of CART cells and pharmacological STING stimulation counteracts tumor escape via antigen-loss variants

Journal for immunotherapy of cancer, 2021-11, Vol.9 (11), p.e003351

2021

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Adaptations to climate-mediated selective pressures in humans

PLoS genetics, 2011-04, Vol.7 (4), p.e1001375

2011

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Adaptations to new environments in humans: the role of subtle allele frequency shifts

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2010-08, Vol.365 (1552), p.2459-2468

2010

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Gut microbiota produces biofilm-associated amyloids with potential for neurodegeneration

Nature communications, 2024-05, Vol.15 (1), p.4150-4150, Article 4150

2024

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Building on the clinical applicability of ctDNA analysis in non-metastatic pancreatic ductal adenocarcinoma

Scientific reports, 2024-07, Vol.14 (1), p.16203-12, Article 16203

2024

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Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3

Clinical case reports, 2017-08, Vol.5 (8), p.1277-1283

2017

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Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA

The journal of clinical endocrinology and metabolism, 2018-01, Vol.103 (1), p.35-45

2018

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Histaminergic angioedema: similarities and differences between isolated angioedema and chronic urticaria with angioedema

Journal of allergy and clinical immunology, 2020-02, Vol.145 (2), p.AB200

2020

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Performance comparison of two next-generation sequencing panels to detect actionable mutations in cell-free DNA in cancer patients

Clinical chemistry and laboratory medicine, 2020-08, Vol.58 (8), p.1341-1348

2020

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PRIMAL: Fast and accurate pedigree-based imputation from sequence data in a founder population

PLoS computational biology, 2015-03, Vol.11 (3), p.e1004139-e1004139

2015

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The Dynamic Use of EGFR Mutation Analysis in Cell-Free DNA as a Follow-Up Biomarker during Different Treatment Lines in Non-Small-Cell Lung Cancer Patients

Disease markers, 2019, Vol.2019 (2019), p.1-7

2019

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Does arterial hypertension influence the onset of Huntington's disease?

PloS one, 2018-05, Vol.13 (5), p.e0197975-e0197975

2018

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Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure

Journal of personalized medicine, 2021-06, Vol.11 (7), p.609

2021

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Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene

PloS one, 2015-07, Vol.10 (7), p.e0131573-e0131573

2015

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Reconstructing Native American population history

Nature (London), 2012-08, Vol.488 (7411), p.370-374

2012

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Biological and clinical significance of dysplastic hematopoiesis in patients with newly diagnosed multiple myeloma

Blood, 2020-06, Vol.135 (26), p.2375-2387

2020

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Decrease in Diversity of Nasal Microbiota during Wheezing Episodes in Preschool Children

Journal of allergy and clinical immunology, 2015-02, Vol.135 (2), p.AB274-AB274

2015

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Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds

Genetic epidemiology, 2008-07, Vol.32 (5), p.445-453

2008

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Primary trimethylaminuria syndrome: more than an unpleasant odor

Familial primary cutaneous amyloidosis: Caspase activation may be involved in amyloid formation

Next-generation sequencing of bile cell-free DNA for the early detection of patients with malignant biliary strictures

The genetic architecture of adaptations to high altitude in Ethiopia

Human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency

Epitope spreading driven by the joint action of CART cells and pharmacological STING stimulation counteracts tumor escape via antigen-loss variants

Adaptations to climate-mediated selective pressures in humans

Adaptations to new environments in humans: the role of subtle allele frequency shifts

Gut microbiota produces biofilm-associated amyloids with potential for neurodegeneration

Building on the clinical applicability of ctDNA analysis in non-metastatic pancreatic ductal adenocarcinoma

Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3

Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA

Histaminergic angioedema: similarities and differences between isolated angioedema and chronic urticaria with angioedema

Performance comparison of two next-generation sequencing panels to detect actionable mutations in cell-free DNA in cancer patients

PRIMAL: Fast and accurate pedigree-based imputation from sequence data in a founder population

The Dynamic Use of EGFR Mutation Analysis in Cell-Free DNA as a Follow-Up Biomarker during Different Treatment Lines in Non-Small-Cell Lung Cancer Patients

Does arterial hypertension influence the onset of Huntington's disease?

NGS-Based Molecular Karyotyping of Multiple Myeloma: Results from the GEM12 Clinical Trial

Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure

Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study

Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene

Reconstructing Native American population history

Biological and clinical significance of dysplastic hematopoiesis in patients with newly diagnosed multiple myeloma

Decrease in Diversity of Nasal Microbiota during Wheezing Episodes in Preschool Children

Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds

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