Detalhe da pesquisa
1.
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
Front Genet;
15: 1401705, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38903755
2.
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
Hum Mol Genet;
2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676400
3.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
J Med Genet;
61(7): 689-698, 2024 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458752
4.
Guidelines for the diagnosis and management of adult aplastic anaemia: A British Society for Haematology Guideline.
Br J Haematol;
204(3): 784-804, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38247114
5.
The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema.
Eur J Med Genet;
67: 104905, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38143023
6.
Moyamoya disease/cerebral vasculopathy in osteopathia striata with cranial sclerosis: a rare but important complication.
Clin Dysmorphol;
33(1): 31-37, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38037992
7.
Profound and selective lymphopaenia in primary lymphatic anomaly patients demonstrates the significance of lymphatic-lymphocyte interactions.
Front Immunol;
14: 1279077, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38022535
8.
Erythematous capillary-lymphatic malformations mimicking blood vascular anomalies.
JCI Insight;
8(20)2023 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37698920
9.
Prevalence of Ocular Toxoplasmosis in the General Population and Uveitis Patients: A Systematic Review and Meta-Analysis.
Ocul Immunol Inflamm;
: 1-14, 2023 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043543
10.
Consensus recommendations on lymphedema in Phelan-McDermid syndrome.
Eur J Med Genet;
66(6): 104767, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37075886
11.
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Nat Med;
29(3): 679-688, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928819
12.
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts.
J Med Genet;
60(1): 84-90, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34916230
13.
Effects of 4-phenylbutyric acid on the development of diabetic retinopathy in diabetic rats: regulation of endoplasmic reticulum stress-oxidative activation.
Arch Physiol Biochem;
129(4): 964-974, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33653182
14.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
J Med Genet;
60(2): 183-192, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393335
15.
Spectrum of Ovarian Incidentalomas: Diagnosis and Management.
Br J Radiol;
96(1142): 20211325, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35142537
16.
Case Report: Progressive central conducting lymphatic abnormalities in the RASopathies. Two case reports, including successful treatment by MEK inhibition.
Front Genet;
13: 1001105, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36238151
17.
The Phenotypic Continuum of ATP1A3-Related Disorders.
Neurology;
99(14): e1511-e1526, 2022 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36192182
18.
Paediatric lymphoedema: An audit of patients seen by the paediatric and primary lymphoedema group of vascular European Reference Network (VASCERN).
Eur J Med Genet;
65(12): 104641, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36243335
19.
A Systems Thinking approach for the creation of effective competency-based medical education programs.
Pan Afr Med J;
41: 203, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35685098
20.
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.
Hum Mutat;
43(7): 963-970, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35476365