| Nome |
# |
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COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome, file e0feeaa4-d73c-44d2-e053-6605fe0a8db0
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225
|
|
Preserved speech variant is allelic of classic Rett syndrome, file e0feeaa4-c209-44d2-e053-6605fe0a8db0
|
142
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|
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome, file e0feeaa4-fb2f-44d2-e053-6605fe0a8db0
|
135
|
|
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases, file e0feeaa7-5463-44d2-e053-6605fe0a8db0
|
113
|
|
null, file e0feeaaa-249a-44d2-e053-6605fe0a8db0
|
108
|
|
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population, file e0feeaa8-ceda-44d2-e053-6605fe0a8db0
|
89
|
|
null, file e0feeaaa-1f34-44d2-e053-6605fe0a8db0
|
67
|
|
null, file e0feeaaa-52ef-44d2-e053-6605fe0a8db0
|
63
|
|
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks, file e0feeaaa-5497-44d2-e053-6605fe0a8db0
|
60
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Visual impairment in FOXG1-mutated individuals and mice, file e0feeaab-c56c-44d2-e053-6605fe0a8db0
|
57
|
|
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
|
|
Modelling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells, file 507e2af4-2ec6-4b61-a4a5-f5a9442d4cc9
|
43
|
|
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity, file e0feeaab-0099-44d2-e053-6605fe0a8db0
|
40
|
|
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males., file e8887f01-8ecd-408c-a6e4-5b1d8e6d5c42
|
38
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|
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19, file 96f4df86-86ac-462c-8a12-3ca958289b45
|
28
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|
Epilepsy in Rett syndrome - Lessons from the Rett networked database, file e0feeaab-bf0f-44d2-e053-6605fe0a8db0
|
22
|
|
null, file e0feeaab-b657-44d2-e053-6605fe0a8db0
|
21
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|
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative, file 7dfdc292-6ca7-4a4f-a0ec-8903fa986824
|
20
|
|
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
|
|
null, file e0feeaaa-063d-44d2-e053-6605fe0a8db0
|
18
|
|
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
|
18
|
|
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts, file e0feeaab-68b5-44d2-e053-6605fe0a8db0
|
16
|
|
Mapping the human genetic architecture of COVID-19, file e0feeaab-73d3-44d2-e053-6605fe0a8db0
|
15
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Clinical and molecular characterization of COVID-19 hospitalized patients, file 125e504f-f9c2-4d04-8ea6-eb60ed7246fe
|
14
|
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C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age, file 530676af-72b7-4a15-b48a-51204a80e40d
|
12
|
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An explainable model of host genetic interactions linked to COVID-19 severity, file a40b8f9e-8132-42fb-ba8e-085aaa454eda
|
11
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Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes, file ebc57d5c-8d48-406c-b361-06dd583c7b6b
|
11
|
|
null, file 385893c5-b7c4-4d3e-a732-6db17b23ee3f
|
10
|
|
Whole-genome sequencing reveals host factors underlying critical COVID-19, file b47ac884-9c8d-4cf9-84ab-2c6dfbaa52e5
|
10
|
|
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males, file 434b66aa-b383-4316-9027-8d28bd50a93f
|
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
|
4
|
|
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family, file e0feeaa4-e7c1-44d2-e053-6605fe0a8db0
|
4
|
|
Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder, file e0feeaa5-6d7e-44d2-e053-6605fe0a8db0
|
4
|
|
FOXG1 is responsible for the congenital variant of Rett syndrome., file e0feeaa4-ebb1-44d2-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
|
|
The Italian XLMR bank: a clinical and molecular database, file e0feeaa4-df66-44d2-e053-6605fe0a8db0
|
2
|
|
Epilepsy in Rett syndrome - Lessons from the Rett networked database, file e0feeaa5-685e-44d2-e053-6605fe0a8db0
|
2
|
|
Private inherited microdeletion/microduplications: implications in clinical practice, file e0feeaa5-ea61-44d2-e053-6605fe0a8db0
|
2
|
|
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation, file e0feeaa7-17ff-44d2-e053-6605fe0a8db0
|
2
|
|
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia, file e0feeaa7-fe65-44d2-e053-6605fe0a8db0
|
2
|
|
Genetic mechanisms of critical illness in COVID-19, file e0feeaaa-50e1-44d2-e053-6605fe0a8db0
|
2
|
|
Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women, file c44a78e1-66be-49a4-a3e1-68030161493b
|
1
|
|
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity, file d7cf9e79-1409-43ab-b33c-176302109711
|
1
|
|
Study of MECP2 gene in Rett syndrome variants and autistic girls, file e0feeaa4-d83e-44d2-e053-6605fe0a8db0
|
1
|
|
Clinical and molecular characterization of Italian patients affected by Cohen syndrome, file e0feeaa4-e3cc-44d2-e053-6605fe0a8db0
|
1
|
|
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms., file e0feeaa4-e427-44d2-e053-6605fe0a8db0
|
1
|
|
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett Syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication, file e0feeaa4-e4b6-44d2-e053-6605fe0a8db0
|
1
|
|
Rett syndrome: the complex nature of a monogenic disease, file e0feeaa4-e69c-44d2-e053-6605fe0a8db0
|
1
|
|
iPS cells to model CDKL5-related disorders, file e0feeaa4-e806-44d2-e053-6605fe0a8db0
|
1
|
|
Array comparative genomic hybridization in retinoma and retinoblastoma tissues., file e0feeaa4-e87e-44d2-e053-6605fe0a8db0
|
1
|
|
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing, file e0feeaa5-8d1f-44d2-e053-6605fe0a8db0
|
1
|
|
Visual impairment in FOXG1-mutated individuals and mice, file e0feeaa5-e7eb-44d2-e053-6605fe0a8db0
|
1
|
|
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features, file e0feeaa5-f387-44d2-e053-6605fe0a8db0
|
1
|
|
Genomic differences between retinoma and retinoblastoma., file e0feeaa6-1476-44d2-e053-6605fe0a8db0
|
1
|
|
Italian Rett database and biobank, file e0feeaa7-1c63-44d2-e053-6605fe0a8db0
|
1
|
|
The XLMR gene ACSL4 plays a role in dendritic spine architecture, file e0feeaa7-2dca-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
|
|
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism, file e0feeaa9-e3fa-44d2-e053-6605fe0a8db0
|
1
|
|
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts, file e0feeaaa-3312-44d2-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
|
| Totale |
1.547 |