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1.
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Hum Mutat
; 41(9): 1577-1587, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32516855
2.
Summary report of the 2019 Diversity and Inclusion Task Force of the National Society of Genetic Counselors.
J Genet Couns
; 29(2): 192-201, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32227531
3.
Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience.
Genet Med
; 20(3): 369-373, 2018 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-29240077
4.
Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia.
J Genet Couns
; 25(5): 936-44, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-26667650
5.
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
Proc Natl Acad Sci U S A
; 110(9): 3453-8, 2013 Feb 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-23401503
6.
Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.
Proc Natl Acad Sci U S A
; 109(19): 7391-6, 2012 May 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-22517755
7.
Clinical whole-exome sequencing: are we there yet?
Genet Med
; 16(9): 717-9, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24525916
8.
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Genet Med
; 16(10): 751-8, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-24651605
9.
Points to consider in the clinical use of NGS panels for mitochondrial disease: an analysis of gene inclusion and consent forms.
J Genet Couns
; 23(4): 594-603, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24399097
10.
Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle.
Mol Genet Metab
; 107(3): 428-32, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23031367
11.
Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms.
Circ Genom Precis Med
; 14(6): e003419, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34802252
12.
A Person-Centered Approach to Cardiovascular Genetic Testing.
Cold Spring Harb Perspect Med
; 10(7)2020 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31570390
13.
Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.
Circ Genom Precis Med
; 13(2): e002480, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32160020
14.
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.
Cold Spring Harb Mol Case Stud
; 1(1): a000562, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-27148574
15.
Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early Onset Atrial Fibrillation.
Circ Genom Precis Med
; 12(11): e002713, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31638414
16.
Clinical Characteristics of the GLA N215S Variant and Implications for the Diagnosis and Management of Nonclassic Fabry Disease.
Circ Cardiovasc Genet
; 10(5)2017 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29018007
17.
Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine.
Mitochondrion
; 12(2): 258-61, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-21982779
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