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1.
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
Genet Med
; 18(3): 231-8, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25674778
2.
Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing.
Int J Neonatal Screen
; 6(2)2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32514487
3.
Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population.
Hum Genet
; 124(3): 255-62, 2008 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-18752002
4.
Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.
J Inborn Errors Metab Screen
; 42016.
Artículo
en Inglés
| MEDLINE | ID: mdl-28261631
5.
The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention: Thirty-five Year Experience Assuring Newborn Screening Laboratory Quality.
Int J Neonatal Screen
; 1(1): 13-26, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26309908
6.
Polymorphism scan for differences between transmitted and nontransmitted DRB1*030101 alleles outside of exon 2 for type 1 diabetes: the frequency of polymorphisms is similar.
Hum Immunol
; 65(7): 737-44, 2004 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-15301864
7.
Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines.
Mol Genet Metab Rep
; 1: 312-323, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-27896104
8.
Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis
J. inborn errors metab. screen
; 4: e160018, 2016. tab
Artículo
en Inglés
|
LILACS-Express
| ID: biblio-1090895
9.
Proficiency testing of human leukocyte antigen-DR and human leukocyte antigen-DQ genetic risk assessment for type 1 diabetes using dried blood spots.
J Diabetes Sci Technol
; 4(4): 929-41, 2010 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-20663459
10.
Assessment of DNA contamination from dried blood spots and determination of DNA yield and function using archival newborn dried blood spots.
Clin Chim Acta
; 402(1-2): 107-13, 2009 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-19161996
11.
Nephropathy in type 1 diabetes is diminished in carriers of HLA-DRB1*04: the genetics of kidneys in diabetes (GoKinD) study.
Diabetes
; 57(2): 518-22, 2008 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-18039812
12.
Genetics of Kidneys in Diabetes (GoKinD) study: a genetics collection available for identifying genetic susceptibility factors for diabetic nephropathy in type 1 diabetes.
J Am Soc Nephrol
; 17(7): 1782-90, 2006 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-16775037
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