Detalhe da pesquisa
1.
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Mov Disord
; 37(10): 2139-2146, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876425
2.
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
J Clin Immunol
; 41(8): 1804-1838, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34390440
3.
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.
Genet Med
; 21(3): 718-726, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30050101
4.
Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.
Genet Med
; 21(7): 1669, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30139992
5.
Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors' Organisation Good Practice Paper.
Haemophilia
; 25(1): 116-126, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664826
6.
A systematic review of interventions to provide genetics education for primary care.
BMC Fam Pract
; 17: 89, 2016 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27445117
7.
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
BMC Med Genet
; 16: 84, 2015 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26392352
8.
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Brain
; 136(Pt 2): 508-21, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23413262
9.
ß-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
Brain
; 136(Pt 6): 1708-17, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23687123
10.
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Brain
; 135(Pt 11): 3392-403, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23107649
11.
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.
Mol Genet Metab
; 100(2): 207-12, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20226704
12.
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.
Am J Med Genet A
; 152A(9): 2287-96, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20803646
13.
Siblings with recessive oculopharyngeal muscular dystrophy.
Neuromuscul Disord
; 17(3): 254-7, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17296297
14.
Implementing genetic education in primary care: the Gen-Equip programme.
J Community Genet
; 8(2): 147-150, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28289980
15.
Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.
J Neurol
; 263(7): 1401-8, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27159994
16.
A genealogy of the social identity tradition: Deleuze and Guattari and social psychology.
Br J Soc Psychol
; 41(Pt 1): 1-23, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11970771
17.
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
Eur J Hum Genet
; 19(5): 513-9, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21368916
18.
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
Nat Genet
; 43(10): 929-31, 2011 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-21892158
19.
Epigenetic hypomethylation in FSHD: it's not what you inherit, it's whether it shows.
Neurology
; 83(8): 674-5, 2014 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25031285
20.
A report of a new case of an interstitial deletion at 3p25.3 and expansion of the clinical phenotype.
Clin Dysmorphol
; 23(2): 63-66, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24561646