Detalhe da pesquisa
1.
Bone Mineral Density in Neurofibromatosis Type 1: A Systematic Review and Meta-Analysis.
Calcif Tissue Int
; 113(2): 166-174, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37221347
2.
Inpatient epidemiology, healthcare utilization, and association with comorbidities of Turner syndrome: A National Inpatient Sample study.
Am J Med Genet A
; 191(7): 1870-1877, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37132414
3.
Impact of the COVID-19 pandemic on medical genetics and genomics training: Perspective from clinical trainees.
Am J Med Genet A
; 188(7): 1997-2004, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35338572
4.
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Am J Med Genet A
; 185(5): 1430-1436, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683022
5.
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Am J Med Genet A
; 182(7): 1576-1591, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32500973
6.
SCN5A mutation status increases the risk of major arrhythmic events in Asian populations with Brugada syndrome: systematic review and meta-analysis.
Ann Noninvasive Electrocardiol
; 24(1): e12589, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30126015
7.
Landing a GI Fellowship: The Match and the Map.
Dig Dis Sci
; 63(3): 605-609, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29080995
8.
An adult male with SHANK2 variant with epilepsy and obsessive-compulsive disorder: Expanding the shankopathy phenotypic spectrum.
Clin Genet
; 101(4): 472-473, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35037239
9.
Atypical Femoral Fracture in Hypophosphatasia: A Systematic Review.
Int J Endocrinol
; 2023: 5544148, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37731773
10.
Increased family history documentation in internal medicine resident continuity clinic at a community hospital through resident-led structured genetic education program.
J Community Genet
; 13(3): 347-354, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35230657
11.
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Genome Med
; 13(1): 90, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34020708
12.
Prevalence of thyroid diseases in familial adenomatous polyposis: a systematic review and meta-analysis.
Fam Cancer
; 18(1): 53-62, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29663106
13.
Effects of denosumab on bone metabolism and bone mineral density in kidney transplant patients: a systematic review and meta-analysis.
Arch Osteoporos
; 14(1): 35, 2019 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30852679
14.
C-peptide as a key risk factor for non-alcoholic fatty liver disease in the United States population.
World J Gastroenterol
; 24(32): 3663-3670, 2018 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30166861
15.
A Chromosome 4q25 Variant is Associated with Atrial Fibrillation Recurrence After Catheter Ablation: A Systematic Review and Meta-Analysis.
J Atr Fibrillation
; 10(6): 1666, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29988284
16.
A case of tracheobronchomegaly.
Eur J Intern Med
; 42: e7-e8, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28109701
17.
Increased arterial stiffness in nonalcoholic fatty liver disease: a systematic review and meta-analysis.
Eur J Gastroenterol Hepatol
; 29(9): e28-e35, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28542113
18.
Dialysis Therapy and Conservative Management of Advanced Chronic Kidney Disease in the Elderly: A Systematic Review.
Nephron
; 137(3): 178-189, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28538218
19.
Klippel-Trenaunay-Weber syndrome as a cause of chronic thromboembolic pulmonary hypertension.
BMJ Case Rep
; 20182018 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29572375
20.
Beyond the Classic Segawa Disease, GCH1-Associated Neurodegenerative Parkinsonism: Practical Considerations for Physicians.
J Mov Disord
; 10(2): 102-104, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28415164