Detalhe da pesquisa
1.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A
; 191(7): 1900-1910, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183572
2.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(1): 139-156, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595372
3.
The Effect of Arterial Disease Level on Outcomes of Supervised Exercise Therapy for Intermittent Claudication: A Prospective Cohort Study.
Ann Surg
; 275(3): 609-616, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32740230
4.
Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders.
Genet Med
; 24(3): 645-653, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906484
5.
Supervised Exercise Therapy is Effective for Patients With Intermittent Claudication Regardless of Psychological Constructs.
Eur J Vasc Endovasc Surg
; 63(3): 438-445, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34887208
6.
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.
Int J Mol Sci
; 23(14)2022 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887345
7.
Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.
Am J Med Genet A
; 185(4): 1039-1046, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33439542
8.
Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.
Dev Med Child Neurol
; 63(12): 1441-1447, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34247411
9.
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
Am J Hum Genet
; 101(5): 824-832, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29106825
10.
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Am J Hum Genet
; 100(4): 650-658, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28343630
11.
Primrose syndrome: Characterization of the phenotype in 42 patients.
Clin Genet
; 97(6): 890-901, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266967
12.
Successful Implementation of the Exercise First Approach for Intermittent Claudication in the Netherlands is Associated with Few Lower Limb Revascularisations.
Eur J Vasc Endovasc Surg
; 60(6): 881-887, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32888779
13.
Modes of exercise training for intermittent claudication.
Cochrane Database Syst Rev
; 8: CD009638, 2020 08 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32829481
14.
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
Genet Med
; 21(8): 1719-1725, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30568311
15.
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(9): 2160-2161, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696996
16.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(6): 1295-1307, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349098
17.
A systematic review and meta-analysis of the effects of supervised exercise therapy on modifiable cardiovascular risk factors in intermittent claudication.
J Vasc Surg
; 69(4): 1293-1308.e2, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30777692
18.
Do patients' demographic characteristics affect their perceptions of self-care actions to find safe and decent care?
Appl Nurs Res
; 43: 24-29, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30220359
19.
Should the Extended Lateral Approach Remain Part of Standard Treatment in Displaced Intra-articular Calcaneal Fractures?
J Foot Ankle Surg
; 57(6): 1120-1124, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30205938
20.
Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.
Hum Mutat
; 38(5): 594-599, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28074630