Detalhe da pesquisa
1.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord
; 39(1): 141-151, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964426
2.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904974
3.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A
; 185(11): 3446-3458, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34436830
4.
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Genet Med
; 21(9): 2059-2069, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923367
5.
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
Am J Med Genet A
; 167A(9): 2122-31, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25921057
6.
Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol.
Trials
; 25(1): 103, 2024 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38308321
7.
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK.
Eur J Med Genet
; 65(10): 104592, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35964932
8.
Stress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary artery pressure response to exercise and hypoxia.
Circulation
; 119(13): 1747-57, 2009 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-19307479
9.
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
Eur J Hum Genet
; 25(6): 669-679, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28327575
10.
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.
Hum Mutat
; 27(2): 121-32, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16429395
11.
Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension.
Circulation
; 111(5): 607-13, 2005 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-15699281
12.
Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.
Circulation
; 111(4): 435-41, 2005 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15687131
13.
Multipractitioner Upledger CranioSacral Therapy: descriptive outcome study 2007-2008.
J Altern Complement Med
; 17(1): 13-7, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21214395