| Nome |
# |
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Clonality analysis of immunoglobulin gene rearrangement by next-generation sequencing in endemic burkitt lymphoma suggests antigen drive activation of bcr as opposed to sporadic burkitt lymphoma, file e0feeaa5-8ea4-44d2-e053-6605fe0a8db0
|
177
|
|
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine, file e0feeaa6-8085-44d2-e053-6605fe0a8db0
|
156
|
|
Non-collagen genes role in digenic Alport syndrome, file e0feeaa8-35e4-44d2-e053-6605fe0a8db0
|
120
|
|
Evidence of digenic inheritance in Alport syndrome, file e0feeaab-c770-44d2-e053-6605fe0a8db0
|
111
|
|
null, file e0feeaaa-249a-44d2-e053-6605fe0a8db0
|
108
|
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Alport syndrome: impact of digenic inheritance in patients management, file e0feeaab-67e0-44d2-e053-6605fe0a8db0
|
107
|
|
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population, file e0feeaa8-ceda-44d2-e053-6605fe0a8db0
|
92
|
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Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation, file e0feeaa9-3c5a-44d2-e053-6605fe0a8db0
|
74
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null, file e0feeaaa-1f34-44d2-e053-6605fe0a8db0
|
67
|
|
null, file e0feeaaa-52ef-44d2-e053-6605fe0a8db0
|
63
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|
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report, file e0feeaa9-618d-44d2-e053-6605fe0a8db0
|
62
|
|
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability., file e0feeaab-b7d2-44d2-e053-6605fe0a8db0
|
49
|
|
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome, file e0feeaab-ab72-44d2-e053-6605fe0a8db0
|
48
|
|
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males., file e8887f01-8ecd-408c-a6e4-5b1d8e6d5c42
|
42
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Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19, file 96f4df86-86ac-462c-8a12-3ca958289b45
|
30
|
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Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy, file eea1da74-3789-4d68-96c1-767675171a30
|
27
|
|
null, file e0feeaab-b657-44d2-e053-6605fe0a8db0
|
21
|
|
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues, file b27bf0e9-010f-47e6-a116-48649af66e36
|
20
|
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Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients, file e0feeaab-0e66-44d2-e053-6605fe0a8db0
|
20
|
|
Clinical and molecular characterization of COVID-19 hospitalized patients, file 125e504f-f9c2-4d04-8ea6-eb60ed7246fe
|
19
|
|
null, file e0feeaaa-063d-44d2-e053-6605fe0a8db0
|
18
|
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Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder, file b20c7c6d-3484-4c52-b23e-882128b7e281
|
16
|
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Mapping the human genetic architecture of COVID-19, file e0feeaab-73d3-44d2-e053-6605fe0a8db0
|
15
|
|
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age, file 530676af-72b7-4a15-b48a-51204a80e40d
|
13
|
|
Whole-genome sequencing reveals host factors underlying critical COVID-19, file b47ac884-9c8d-4cf9-84ab-2c6dfbaa52e5
|
12
|
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Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes, file ebc57d5c-8d48-406c-b361-06dd583c7b6b
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12
|
|
An explainable model of host genetic interactions linked to COVID-19 severity, file a40b8f9e-8132-42fb-ba8e-085aaa454eda
|
11
|
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null, file 385893c5-b7c4-4d3e-a732-6db17b23ee3f
|
10
|
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SELP Asp603Asn and severe thrombosis in COVID-19 males, file e0feeaaa-35ce-44d2-e053-6605fe0a8db0
|
10
|
|
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males, file 434b66aa-b383-4316-9027-8d28bd50a93f
|
9
|
|
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology, file e0feeaa6-2181-44d2-e053-6605fe0a8db0
|
9
|
|
null, file e0feeaa9-7c6e-44d2-e053-6605fe0a8db0
|
8
|
|
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues, file 4b6371f4-5458-443b-941a-cf972c6ace63
|
6
|
|
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research, file 2280e542-6881-4bb1-813e-9235d2285d2d
|
5
|
|
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity, file d7cf9e79-1409-43ab-b33c-176302109711
|
5
|
|
Advances in Alport syndrome diagnosis using next-generation sequencing, file e0feeaa4-e805-44d2-e053-6605fe0a8db0
|
4
|
|
A Unique Patient Presenting with Concomitant Klinefelter Syndrome, Alport Syndrome and Craniopharyngioma., file e0feeaa4-ec10-44d2-e053-6605fe0a8db0
|
3
|
|
null, file e0feeaa7-e022-44d2-e053-6605fe0a8db0
|
3
|
|
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study, file 512d6119-39f2-474c-a2fd-045eb023d546
|
2
|
|
Pathogen-sugar interactions revealed by universal saturation transfer analysis, file 83e3ea53-7dd8-465d-985b-a21f380e98c4
|
2
|
|
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia, file e0feeaa7-fe65-44d2-e053-6605fe0a8db0
|
2
|
|
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants, file e0feeaaa-3c01-44d2-e053-6605fe0a8db0
|
2
|
|
Genetic mechanisms of critical illness in COVID-19, file e0feeaaa-50e1-44d2-e053-6605fe0a8db0
|
2
|
|
Alport syndrome: impact of digenic inheritance in patients management, file e0feeaab-67e1-44d2-e053-6605fe0a8db0
|
2
|
|
Detection of cryptic mosaicism in X-linked alport syndrome prompts to re-evaluate living-donor kidney transplantation, file eee44607-ca6d-454e-bc12-500bf1e1b82d
|
2
|
|
Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney Transplantation, file 2dd3a955-d056-4c68-ab80-1f672c3a2175
|
1
|
|
Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women, file c44a78e1-66be-49a4-a3e1-68030161493b
|
1
|
|
A Unique Patient Presenting with Concomitant Klinefelter Syndrome, Alport Syndrome and Craniopharyngioma., file e0feeaa7-055d-44d2-e053-6605fe0a8db0
|
1
|
|
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome, file e0feeaa7-7f45-44d2-e053-6605fe0a8db0
|
1
|
|
Evidence of digenic inheritance in Alport syndrome, file e0feeaa9-f086-44d2-e053-6605fe0a8db0
|
1
|
|
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability., file e0feeaaa-145b-44d2-e053-6605fe0a8db0
|
1
|
|
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality, file e0feeaab-0fea-44d2-e053-6605fe0a8db0
|
1
|
|
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome, file fa0345e7-a40b-401f-ba2a-349831c18220
|
1
|
| Totale |
1.604 |