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1.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Genet Med
; 25(4): 100018, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36681873
2.
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.
Int J Mol Sci
; 23(16)2022 Aug 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-36012761
3.
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
Am J Med Genet A
; 185(3): 877-883, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33346930
4.
Progress, challenges and global approaches to rare diseases.
Acta Paediatr
; 110(10): 2711-2716, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34105798
5.
Early non-social behavioural indicators of autism spectrum disorder (ASD) in siblings at elevated likelihood for ASD: a systematic review.
Eur Child Adolesc Psychiatry
; 30(4): 497-538, 2021 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-32088859
6.
Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships.
J Hum Genet
; 65(2): 165-174, 2020 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-31772335
7.
Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.
Am J Respir Cell Mol Biol
; 58(6): 706-716, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29232161
8.
Consensus on the criteria needed for creating a rare-disease patient registry. A Delphi study.
J Public Health (Oxf)
; 38(2): e178-86, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26294444
9.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Hum Mutat
; 36(4): 395-402, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25604253
10.
Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.
Respir Res
; 15: 125, 2014 Oct 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-25287719
11.
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.
J Gen Intern Med
; 29 Suppl 3: S780-7, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25029978
12.
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.
Hum Mutat
; 34(11): 1449-57, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23913485
13.
Prevalence of Autism Spectrum Disorder in the Centro region of Portugal: a population based study of school age children within the ASDEU project.
Front Psychiatry
; 14: 1148184, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37711428
14.
Autism spectrum disorder prevalence in Italy: a nationwide study promoted by the Ministry of Health.
Child Adolesc Psychiatry Ment Health
; 17(1): 125, 2023 Oct 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-37898807
15.
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
Front Public Health
; 11: 1079601, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36935719
16.
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.
Front Public Health
; 11: 1248260, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37822540
17.
The need for worldwide policy and action plans for rare diseases.
Acta Paediatr
; 101(8): 805-7, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22519914
18.
Autistic Adult Services Availability, Preferences, and User Experiences: Results From the Autism Spectrum Disorder in the European Union Survey.
Front Psychiatry
; 13: 919234, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35757227
19.
Intervention Services for Autistic Adults: An ASDEU Study of Autistic Adults, Carers, and Professionals' Experiences.
J Autism Dev Disord
; 52(4): 1623-1639, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-33966137
20.
Cost-of-illness studies in rare diseases: a scoping review.
Orphanet J Rare Dis
; 16(1): 178, 2021 04 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-33849613