Detalhe da pesquisa
1.
A model for the return and referral of all clinically significant secondary findings of genomic sequencing.
J Med Genet
; 60(8): 733-739, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37217257
2.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Kidney Int
; 104(5): 995-1007, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598857
3.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Am J Hum Genet
; 107(2): 352-363, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693025
4.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Genet Med
; 25(7): 100839, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057675
5.
The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders.
J Pediatr Gastroenterol Nutr
; 74(5): 575-581, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35149643
6.
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
J Med Genet
; 58(4): 275-283, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581083
7.
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.
Clin Genet
; 100(4): 405-411, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34196401
8.
Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products.
Value Health
; 24(2): 268-273, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33518033
9.
Antimicrobial Resistance: Is Health Technology Assessment Part of the Solution or Part of the Problem?
Value Health
; 24(12): 1828-1834, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34838281
10.
Increased Spread of Native T1 Values Assessed With MRI as a Marker of Cardiac Involvement in Fabry Disease.
AJR Am J Roentgenol
; 216(2): 355-361, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32755161
11.
Left Ventricular Hypertrophy and Late Gadolinium Enhancement at Cardiac MRI Are Associated with Adverse Cardiac Events in Fabry Disease.
Radiology
; 294(1): 42-49, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660802
12.
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.
Circulation
; 138(12): 1195-1205, 2018 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959160
13.
Loss of base-to-apex circumferential strain gradient assessed by cardiovascular magnetic resonance in Fabry disease: relationship to T1 mapping, late gadolinium enhancement and hypertrophy.
J Cardiovasc Magn Reson
; 21(1): 45, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31366357
14.
Use of Myocardial T1 Mapping at 3.0 T to Differentiate Anderson-Fabry Disease from Hypertrophic Cardiomyopathy.
Radiology
; 288(2): 398-406, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29688154
15.
RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder.
Am J Med Genet A
; 191(6): 1664-1668, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36995918
16.
International cooperation to improve access to and sustain effectiveness of antimicrobials.
Lancet
; 387(10015): 296-307, 2016 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26603920
17.
Whole exome sequencing identified 1 base pair novel deletion in BCL2-associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members.
Am J Med Genet A
; 173(3): 699-705, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28211974
18.
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Hum Mutat
; 37(2): 148-54, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26507355
19.
Delinking Investment in Antibiotic Research and Development from Sales Revenues: The Challenges of Transforming a Promising Idea into Reality.
PLoS Med
; 13(6): e1002043, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27299990
20.
Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome.
Am J Med Genet A
; 170A(5): 1251-6, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26842671