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1.
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.
Am J Hum Genet;
102(4): 706-712, 2018 04 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29625025
2.
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.
J Med Genet;
56(4): 252-260, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30661052
3.
Assessment of the Information Sources and Interest in Research Collaboration Among Individuals with Vascular Ehlers-Danlos Syndrome.
Ann Vasc Surg;
62: 326-334, 2020 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-31449940
4.
MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.
Genet Med;
21(1): 144-151, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29925964
5.
Recessive mutations in VPS13D cause childhood onset movement disorders.
Ann Neurol;
83(6): 1089-1095, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29518281
6.
Parent Perspectives of Support Received from Physicians and/or Genetic Counselors Following a Decision to Continue a Pregnancy with a Prenatal Diagnosis of Trisomy 13/18.
J Genet Couns;
27(3): 656-664, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29079891
7.
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Hum Mutat;
34(10): 1415-23, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23878096
8.
Molecular genetic testing for hereditary ataxia: What every neurologist should know.
Neurol Clin Pract;
8(1): 27-32, 2018 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-29517052
9.
Impact of preoperative screening for rectal colonization with fluoroquinolone-resistant enteric bacteria on the incidence of sepsis following transrectal ultrasound guided prostate biopsy.
Res Rep Urol;
9: 37-41, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28280717
10.
Improving the value of costly genetic reference laboratory testing with active utilization management.
Arch Pathol Lab Med;
138(1): 110-3, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24377818
11.
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
Neuromuscul Disord;
24(4): 312-20, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24491487
12.
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
Am J Med Genet A;
129A(3): 235-47, 2004 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-15326622
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