Detalhe da pesquisa
1.
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
BMC Genomics
; 24(1): 460, 2023 Aug 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37587458
2.
Scoping review of COVID-19-related systematic reviews and meta-analyses: can we really have confidence in their results?
Postgrad Med J
; 98(1159): 372-379, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33637639
3.
Update on the Genetics of Primary Aldosteronism and Aldosterone-Producing Adenomas.
Curr Cardiol Rep
; 24(9): 1189-1195, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35841527
4.
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model.
Genet Med
; 23(10): 1864-1872, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050321
5.
Contralateral Suppression Index Does Not Predict Clinical Cure in Patients Undergoing Surgery for Primary Aldosteronism.
Ann Surg Oncol
; 28(12): 7487-7495, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33939050
6.
Oxidative phosphorylation in creatine transporter deficiency.
NMR Biomed
; 34(1): e4419, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32990357
7.
Dual molecular diagnoses in a neurometabolic specialty clinic.
Am J Med Genet A
; 185(3): 766-773, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369152
8.
Survivorship Issues in Adult Patients With Histiocytic Neoplasms.
J Natl Compr Canc Netw
; 19(11): 1312-1318, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34781266
9.
A Gene-Based Classification of Primary Adrenocortical Hyperplasias.
Horm Metab Res
; 52(3): 133-141, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32215884
10.
Endocrine Conditions and COVID-19.
Horm Metab Res
; 52(7): 471-484, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32512611
11.
Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients.
Clin Genet
; 96(5): 461-467, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31368132
12.
Adrenal morphology and associated comorbidities in congenital adrenal hyperplasia.
Clin Endocrinol (Oxf)
; 91(2): 247-255, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31001843
13.
Genetics of Hypertension in African Americans and Others of African Descent.
Int J Mol Sci
; 20(5)2019 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30832344
14.
Coronary calcification in adults with Turner syndrome.
Genet Med
; 20(6): 664-668, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29176683
15.
An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.
Rev Endocr Metab Disord
; 19(1): 53-67, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29956047
16.
Primary hypophysitis and other autoimmune disorders of the sellar and suprasellar regions.
Rev Endocr Metab Disord
; 19(4): 335-347, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30547288
17.
Not quite type 1 or type 2, what now? Review of monogenic, mitochondrial, and syndromic diabetes.
Rev Endocr Metab Disord
; 19(1): 35-52, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29777474
18.
Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome.
Am J Med Genet A
; 176(6): 1411-1415, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29663633
19.
Successful Treatment of Estrogen Excess in Primary Bilateral Macronodular Adrenocortical Hyperplasia with Leuprolide Acetate.
Horm Metab Res
; 50(2): 124-132, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29183089
20.
Transplantation as disease modifying therapy in adults with inherited metabolic disorders.
J Inherit Metab Dis
; 41(5): 885-896, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29392586