Detalhe da pesquisa
1.
Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.
J Genet Couns
; 30(3): 693-700, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33142000
2.
Heterozygous rare genetic variants in non-syndromic early-onset obesity.
Int J Obes (Lond)
; 44(4): 830-841, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30926952
3.
Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants.
PLoS Genet
; 13(5): e1006657, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28489853
4.
Psychiatric genetic counseling: A mapping exercise.
Am J Med Genet B Neuropsychiatr Genet
; 180(8): 523-532, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31222934
5.
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.
Genome Res
; 23(9): 1410-21, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23783273
6.
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
Ann Clin Transl Neurol
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38750253
7.
An European overview of genetic counselling supervision provision.
Eur J Med Genet
; 66(4): 104710, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36731744
8.
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.
Hum Genet
; 131(3): 513-23, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21975797
9.
Current Status of Genetic Counselling for Rare Diseases in Spain.
Diagnostics (Basel)
; 11(12)2021 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34943558
10.
Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors.
Eur J Hum Genet
; 27(12): 1774-1782, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31053787
11.
Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling.
Eur J Hum Genet
; 26(10): 1554-1557, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29904179
12.
Provision of Genetic Services for Autism and its Impact on Spanish Families.
J Autism Dev Disord
; 47(10): 2947-2956, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28681252
13.
Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe.
Eur J Hum Genet
; 25(8): 918-923, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28513616
14.
The perceived impact of the European registration system for genetic counsellors and nurses.
Eur J Hum Genet
; 25(9): 1075-1077, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28513617
15.
The need for recognition of core professional groups in genetics healthcare services in Europe.
Eur J Hum Genet
; 30(6): 639-640, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35283482
16.
Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.
EMBO Mol Med
; 8(4): 363-74, 2016 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26902202
17.
Genetic counsellors in a multidisciplinary model of clinical genetics and hereditary cancer. / Integración del asesor genético en el modelo asistencial multidisciplinar en genética clínica y cáncer hereditario.
Med Clin (Barc)
; 155(2): 77-81, 2020 07 24.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-32173072
18.
DNA methylation abnormalities in congenital heart disease.
Epigenetics
; 10(2): 167-77, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25587870
19.
The recognition of the profession of Genetic Counsellors in Europe.
Eur J Hum Genet
; 26(12): 1719-1720, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30254214
20.
A Delphi study to determine the European core curriculum for Master programmes in genetic counselling.
Eur J Hum Genet
; 21(10): 1060-6, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23340512