Found: 39
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The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0527-7
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- Publication type:
- Article
Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder.
- Published in:
- 2020
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- Publication type:
- journal article
Epilepsy in Rett syndrome-Lessons from the Rett networked database.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 4, p. 569, doi. 10.1111/epi.12941
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- Publication type:
- Article
C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 6991, doi. 10.3390/ijms22136991
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- Publication type:
- Article
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
- Published in:
- Human Genetics, 2022, v. 141, n. 1, p. 147, doi. 10.1007/s00439-021-02397-7
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- Publication type:
- Article
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
- Published in:
- 2008
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- Publication type:
- Correction Notice
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 12, p. 1011, doi. 10.1007/s10038-007-0208-4
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- Publication type:
- Article
Genomic differences between retinoma and retinoblastoma.
- Published in:
- Acta Oncologica, 2008, v. 47, n. 8, p. 1483, doi. 10.1080/02841860802342382
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- Publication type:
- Article
Low‐level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia.
- Published in:
- British Journal of Haematology, 2019, v. 184, n. 4, p. 657, doi. 10.1111/bjh.15147
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- Publication type:
- Article
Is Rett syndrome a loss-of-imprinting disorder?
- Published in:
- Nature Genetics, 2005, v. 37, n. 1, p. 10, doi. 10.1038/ng0105-10
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- Publication type:
- Article
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
- Published in:
- Nature Genetics, 2002, v. 30, n. 4, p. 436, doi. 10.1038/ng857
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- Publication type:
- Article
JNK signaling provides a novel therapeutic target for Rett syndrome.
- Published in:
- BMC Biology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12915-021-01190-2
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- Publication type:
- Article
Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056599
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- Publication type:
- Article
Rett syndrome: the complex nature of a monogenic disease.
- Published in:
- Journal of Molecular Medicine, 2003, v. 81, n. 6, p. 346, doi. 10.1007/s00109-003-0444-9
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- Publication type:
- Article
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
- Published in:
- Journal of Molecular Medicine, 2001, v. 78, n. 11, p. 648, doi. 10.1007/s001090000155
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- Publication type:
- Article
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
- Published in:
- Human Genetics, 2002, v. 110, n. 2, p. 182, doi. 10.1007/s00439-001-0659-1
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- Publication type:
- Article
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1523, doi. 10.1038/ejhg.2015.6
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- Publication type:
- Article
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 195, doi. 10.1038/ejhg.2014.81
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- Publication type:
- Article
iPS cells to model CDKL5-related disorders.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1246, doi. 10.1038/ejhg.2011.131
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- Publication type:
- Article
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 717, doi. 10.1038/ejhg.2010.244
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- Publication type:
- Article
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 682, doi. 10.1038/sj.ejhg.5201198
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- Publication type:
- Article
Preserved speech variant is allelic of classic Rett syndrome.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 5, p. 325, doi. 10.1038/sj.ejhg.5200473
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- Publication type:
- Article
Natural Course of IQSEC2 -Related Encephalopathy: An Italian National Structured Survey.
- Published in:
- Children, 2023, v. 10, n. 9, p. 1442, doi. 10.3390/children10091442
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- Publication type:
- Article
Going "Viral": Wayang Elektrik, Wayang Climen and Other Forms of Online Javanese Shadow Puppet Theatre in the Time of Pandemic.
- Published in:
- Journal of World Popular Music, 2023, v. 10, n. 1, p. 36, doi. 10.1558/jwpm.26376
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- Publication type:
- Article
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder.
- Published in:
- Respiratory Research, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12931-023-02458-7
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- Publication type:
- Article
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder.
- Published in:
- Respiratory Research, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12931-023-02458-7
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- Publication type:
- Article
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.
- Published in:
- Pediatric Nephrology, 2011, v. 26, n. 5, p. 717, doi. 10.1007/s00467-010-1693-9
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- Publication type:
- Article
HLA‐DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID‐19.
- Published in:
- HLA: Immune Response Genetics, 2024, v. 103, n. 1, p. 1, doi. 10.1111/tan.15251
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- Publication type:
- Article
An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with IQSEC2 -Related Neural Disorder: A Possible New Cell-Based Disease Model.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 7, p. 977, doi. 10.3390/cells12070977
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- Publication type:
- Article
Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2014, v. 2014, p. 1, doi. 10.1155/2014/195935
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- Publication type:
- Article
Italian Rett database and biobank.
- Published in:
- 2007
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- Publication type:
- Other
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.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 172, doi. 10.1002/humu.20065
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- Publication type:
- Article
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
- Published in:
- Nephrology Dialysis Transplantation, 2006, v. 21, n. 3, p. 665, doi. 10.1093/ndt/gfi312
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- Publication type:
- Article
Array comparative genomic hybridization in retinoma and retinoblastoma tissues.
- Published in:
- Cancer Science, 2009, v. 100, n. 3, p. 465, doi. 10.1111/j.1349-7006.2008.01070.x
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- Publication type:
- Article
Huntington's disease gene expansion associates with early onset nonprogressive chorea.
- Published in:
- Movement Disorders, 2013, v. 28, n. 5, p. 684, doi. 10.1002/mds.25443
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- Publication type:
- Article
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 85, doi. 10.1002/humu.1157
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- Publication type:
- Article
An explainable model of host genetic interactions linked to COVID-19 severity.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-04073-6
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- Publication type:
- Article
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-53310-x
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- Publication type:
- Article
COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome.
- Published in:
- Kidney International, 2002, v. 61, n. 6, p. 1947, doi. 10.1046/j.1523-1755.2002.00379.x
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- Publication type:
- Article