| Nome |
# |
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The continuity of effect of schizophrenia polygenic risk score and patterns of cannabis use on transdiagnostic symptom dimensions at first-episode psychosis: findings from the EU-GEI study, file 47a87e63-0e0a-47f5-a39e-54ca05fda2f3
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400
|
|
Dealing With BRCA1/2 unclassified variants in a cancer genetics clinic: Does cosegregation analysis help?, file e1dcb332-48a7-7715-e053-1705fe0a6cc9
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302
|
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INPP4B overexpression and c-KIT downregulation in human achalasia., file e1dcb336-c7f9-7715-e053-1705fe0a6cc9
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217
|
|
Expression of 19 microRNAs in glioblastoma and comparison with other brain neoplasia of grades I–III, file e1dcb331-4578-7715-e053-1705fe0a6cc9
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193
|
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Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer, file e1dcb333-f945-7715-e053-1705fe0a6cc9
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171
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A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder., file e1dcb331-3e26-7715-e053-1705fe0a6cc9
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162
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A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors, file e1dcb333-76b8-7715-e053-1705fe0a6cc9
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127
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Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients., file e1dcb331-9377-7715-e053-1705fe0a6cc9
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123
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Whole genome sequencing of familial non-medullary thyroid cancer identifies germline alterations in MAPK/ERK and PI3K/AKT signaling pathways, file e1dcb333-5e9a-7715-e053-1705fe0a6cc9
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116
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Neuroactive Steroids in First-Episode Psychosis: A Role for Progesterone?, file e1dcb32f-4820-7715-e053-1705fe0a6cc9
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113
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Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family, file e1dcb332-48aa-7715-e053-1705fe0a6cc9
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110
|
|
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene, file e1dcb332-5bf0-7715-e053-1705fe0a6cc9
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110
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Expression of the Bitter taste receptor, T2R38, in enteroendocrine cells of the colonic mucosa of overweight/obese vs. Lean subjects, file e1dcb32d-baab-7715-e053-1705fe0a6cc9
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109
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The FAGenomicH project: Towards a whole candidate gene approach to identify markers associated with fatness and production traits in pigs and investigate the pig as a model for human obesity, file e1dcb331-b28f-7715-e053-1705fe0a6cc9
|
106
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Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: Results from a case report, file e1dcb332-48ad-7715-e053-1705fe0a6cc9
|
104
|
|
Definition of miRNAs expression profile in glioblastoma samples: the relevance of non-neoplastic brain reference., file e1dcb32c-410e-7715-e053-1705fe0a6cc9
|
102
|
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Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso, file e1dcb335-c917-7715-e053-1705fe0a6cc9
|
100
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miRNAs expression analysis in paired fresh/frozen and dissected formalin fixed and paraffin embedded glioblastoma using real-time pCR., file e1dcb32c-0ba1-7715-e053-1705fe0a6cc9
|
98
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|
Expression of RAD21 immunoreactivity in myenteric neurons of the human and mouse small intestine, file e1dcb333-0276-7715-e053-1705fe0a6cc9
|
98
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|
Gut epithelial and vascular barrier abnormalities in patients with chronic intestinal pseudo-obstruction, file e1dcb336-c8b8-7715-e053-1705fe0a6cc9
|
98
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Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction, file 91e7da1f-1093-4925-9b2c-9e935327f991
|
96
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Rasal1 and ros1 gene variants in hereditary breast cancer, file e1dcb335-9b2f-7715-e053-1705fe0a6cc9
|
86
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|
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations, file e1dcb335-9070-7715-e053-1705fe0a6cc9
|
74
|
|
Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer, file e1dcb337-3d3e-7715-e053-1705fe0a6cc9
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68
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Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients, file e1dcb330-479b-7715-e053-1705fe0a6cc9
|
60
|
|
Calcium and Reactive Oxygen Species Signaling Interplays in Cardiac Physiology and PathologiesCalcium and Reactive Oxygen Species Signaling Interplays in Cardiac Physiology and Pathologies, file e4826df1-933e-402a-8bab-2f3235ccbe42
|
57
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A germline mutation in the POT1 gene is a candidate for familial non-medullary thyroid cancer, file e1dcb335-adba-7715-e053-1705fe0a6cc9
|
55
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TOM: a web-based integrated approach for identification of candidate disease genes, file e1dcb32b-ddb8-7715-e053-1705fe0a6cc9
|
53
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|
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction., file e1dcb339-e3b7-7715-e053-1705fe0a6cc9
|
51
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BRAF exon 15 mutations in papillary carcinoma and adjacent thyroid parenchyma: A search for the early molecular events associated with tumor development, file e1dcb334-38c2-7715-e053-1705fe0a6cc9
|
46
|
|
PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis, file e1dcb337-cd77-7715-e053-1705fe0a6cc9
|
44
|
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Protective Actions of Epithelial 5-Hydroxytryptamine 4 Receptors in Normal and Inflamed Colon, file e1dcb338-4a70-7715-e053-1705fe0a6cc9
|
43
|
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Rasal1 and ros1 gene variants in hereditary breast cancer, file e1dcb335-c813-7715-e053-1705fe0a6cc9
|
25
|
|
Correlations between Molecular Alterations, Histopathological Characteristics, and Poor Prognosis in Esophageal Adenocarcinoma, file 5931c9f7-004a-4930-ae9c-1ef99e3dc149
|
21
|
|
Genetics of familial non-medullary thyroid carcinoma (FNMTC), file e1dcb338-9924-7715-e053-1705fe0a6cc9
|
21
|
|
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations, file e1dcb336-4105-7715-e053-1705fe0a6cc9
|
20
|
|
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?, file e1dcb337-e87b-7715-e053-1705fe0a6cc9
|
19
|
|
The continuity of effect of schizophrenia polygenic risk score and patterns of cannabis use on transdiagnostic symptom dimensions at first-episode psychosis: findings from the EU-GEI study, file e1dcb339-ca1a-7715-e053-1705fe0a6cc9
|
19
|
|
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations, file e1dcb336-3d73-7715-e053-1705fe0a6cc9
|
18
|
|
Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility, file e1dcb338-d7db-7715-e053-1705fe0a6cc9
|
18
|
|
A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorder., file 6b8976fa-8ed3-4d97-bdbd-c777da64ea83
|
17
|
|
PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis, file d7a5200e-79cd-4a33-9526-238d3ff141b3
|
16
|
|
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations, file c9dcd477-7a04-4dd3-a7bd-30a61cec7048
|
14
|
|
The prognostic impact of histology in esophageal and esophago-gastric junction adenocarcinoma, file e1dcb338-e2cf-7715-e053-1705fe0a6cc9
|
14
|
|
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations, file e1dcb336-3d74-7715-e053-1705fe0a6cc9
|
13
|
|
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations, file e1dcb336-4103-7715-e053-1705fe0a6cc9
|
13
|
|
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations, file e1dcb336-4104-7715-e053-1705fe0a6cc9
|
13
|
|
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction., file e1dcb339-e3b8-7715-e053-1705fe0a6cc9
|
12
|
|
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain, file e1dcb32f-557f-7715-e053-1705fe0a6cc9
|
10
|
|
Selective targeting BMP2 and 4 in SMAD4 negative esophageal adenocarcinoma inhibits tumor growth and aggressiveness in preclinical models, file 52a3a524-fe9a-42cd-85c9-9cdb2883577d
|
8
|
|
Protective Actions of Epithelial 5-Hydroxytryptamine 4 Receptors in Normal and Inflamed Colon, file e1dcb338-293d-7715-e053-1705fe0a6cc9
|
7
|
|
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits, file e1dcb32f-557d-7715-e053-1705fe0a6cc9
|
6
|
|
Distribution and Characterization of RAD21 Immunoreactivity in Mouse and Human Enteric Neurons, file e1dcb330-35dc-7715-e053-1705fe0a6cc9
|
6
|
|
Mast cell-nerve interactions correlate with bloating and abdominal pain severity in patients with non-celiac gluten / wheat sensitivity, file e1dcb334-5c12-7715-e053-1705fe0a6cc9
|
6
|
|
Editorial: Mitochondrial bioenergetics impairments in genetic and metabolic diseases, file 74815f11-574e-4cc9-aa9a-dbda2463d045
|
5
|
|
Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting, file da31955f-dfc5-4c5d-8c07-27e4fd56ae89
|
5
|
|
Su1852 The 5-HT4 Selective Agonist Prucalopride Exerts Neural and Epithelial Protective Effects In Vitro, file e1dcb330-35da-7715-e053-1705fe0a6cc9
|
5
|
|
A germline mutation in the POT1 gene is a candidate for familial non-medullary thyroid cancer, file e1dcb336-4107-7715-e053-1705fe0a6cc9
|
5
|
|
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy, file e1dcb338-a379-7715-e053-1705fe0a6cc9
|
5
|
|
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q, file fc763765-0a5c-41f5-9ade-4cbf0deafdd0
|
4
|
|
Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia, file 21dca974-d103-404d-b3b7-14eb0a8da097
|
3
|
|
Use of multiple polygenic risk scores for distinguishing schizophrenia-spectrum disorder and affective psychosis categories in a first-episode sample; the EU-GEI study, file 7b61b489-71ca-470e-a5c9-38ac67261032
|
3
|
|
DICER1 mutations in familial multinodular goiter with and without ovarian sertoli-leydig cell tumors, file e1dcb32f-659c-7715-e053-1705fe0a6cc9
|
3
|
|
Calcium and Reactive Oxygen Species Signaling Interplays in Cardiac Physiology and Pathologies, file 7e7aeef1-d5a8-4aaa-93f2-c264b688e732
|
2
|
|
Detection of a Novel MSI2-C17orf64 Transcript in a Patient with Aggressive Adenocarcinoma of the Gastroesophageal Junction: A Case Report, file b2c2bcd1-04ea-421c-a9ab-c379cc5f399a
|
2
|
|
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations, file c9aa953a-7a28-438c-9b2c-3211b728bb1b
|
2
|
|
null, file e1dcb32e-e887-7715-e053-1705fe0a6cc9
|
2
|
|
Expression of RAD21 immunoreactivity in myenteric neurons of the human and mouse small intestine, file e1dcb331-ff94-7715-e053-1705fe0a6cc9
|
2
|
|
Whole genome sequencing of familial non-medullary thyroid cancer identifies germline alterations in MAPK/ERK and PI3K/AKT signaling pathways, file e1dcb335-8e17-7715-e053-1705fe0a6cc9
|
2
|
|
Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia, file fa296b9c-083f-4306-92d1-93cce48f668c
|
2
|
|
Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia, file 359eb5c7-5a25-4c18-86b3-0ed7473d2c96
|
1
|
|
A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorder., file 478753b3-f747-4d94-8b89-a87ba0a08528
|
1
|
|
Omics Technologies Improving Breast Cancer Research and Diagnostics, file 4f3d18ba-c1ae-48f6-97fd-e746bb4f2ce9
|
1
|
|
Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia, file 8273e755-3d9c-4f8a-9967-08f318ef1233
|
1
|
|
Correlations between Molecular Alterations, Histopathological Characteristics, and Poor Prognosis in Esophageal Adenocarcinoma, file acd7e1d6-e1df-4b53-9e55-b558e66fcc19
|
1
|
|
Use of multiple polygenic risk scores for distinguishing schizophrenia-spectrum disorder and affective psychosis categories in a first-episode sample; the EU-GEI study, file b1442322-69aa-413c-8323-0b470509b796
|
1
|
|
miRNA–221 and miRNA–483–3p Dysregulation in Esophageal Adenocarcinoma, file c98c315d-4ee4-457d-9e0b-6d872b7158c0
|
1
|
|
Identifying Gene-Environment Interactions in Schizophrenia: Contemporary Challenges for Integrated, Large-scale Investigations, file e1dcb32d-41be-7715-e053-1705fe0a6cc9
|
1
|
|
Identifying Gene-Environment Interactions in Schizophrenia: Contemporary Challenges for Integrated, Large-scale Investigations, file e1dcb32d-44dd-7715-e053-1705fe0a6cc9
|
1
|
| Totale |
4.069 |