Detalhe da pesquisa
1.
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Clin Endocrinol (Oxf)
; 96(4): 499-512, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34558728
2.
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Clin Genet
; 99(4): 547-557, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33381861
3.
Patient satisfaction and quality of life in hypothyroidism: An online survey by the british thyroid foundation.
Clin Endocrinol (Oxf)
; 94(3): 513-520, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32978985
4.
Practices in synagogues regarding Jewish genetic disease education.
J Genet Couns
; 29(6): 1041-1049, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32091143
5.
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Am J Hum Genet
; 99(5): 1005-1014, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745832
6.
Analysis of BAFF gene polymorphisms in UK Graves' disease patients.
Clin Endocrinol (Oxf)
; 90(1): 170-174, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30281845
7.
The current state of genetic counseling assistants in the United States.
J Genet Couns
; 28(5): 962-973, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31290196
8.
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.
Genet Med
; 20(10): 1206-1215, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300374
9.
Risk of suboptimal hormone replacement therapy for young hypogonadal women and transgender women in the wake of the Joint BMS FSRH RCGP RCOG SfE and RCN Women's Health Forum safety alert.
Clin Endocrinol (Oxf)
; 99(3): 326-327, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37272396
10.
Raising awareness of Graves' orbitopathy with early warning cards.
Clin Endocrinol (Oxf)
; 87(6): 853-859, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28755510
11.
Spontaneous and tetracosactide-induced anti-ACTH antibodies in man.
Clin Endocrinol (Oxf)
; 84(4): 489-95, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25880719
12.
High frequency of cytolytic 21-hydroxylase-specific CD8+ T cells in autoimmune Addison's disease patients.
J Immunol
; 193(5): 2118-26, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25063864
13.
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
Am J Hum Genet
; 90(3): 494-501, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22387013
14.
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis.
Pediatr Dermatol
; 32(5): e219-20, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26135202
15.
Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships.
Genet Med
; 15(1): 70-8, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22858719
16.
The effect of B cell depletion therapy on anti-TSH receptor antibodies and clinical outcome in glucocorticoid-refractory Graves' orbitopathy.
Clin Endocrinol (Oxf)
; 79(3): 437-42, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23320840
17.
Replication of association at the LPP and UBASH3A loci in a UK autoimmune Addison's disease cohort.
Eur J Endocrinol
; 188(1)2023 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651163
18.
Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review.
J Pediatr
; 160(4): 645-650.e2, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22048048
19.
Improving the prehospital safety of steroid-dependent patients in northern England: A hospital-initiated ambulance service registration pathway.
Clin Endocrinol (Oxf)
; 87(6): 881-882, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28834559
20.
Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.
Am J Med Genet A
; 158A(8): 1924-33, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22786685