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1.
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Hum Mutat
; 37(1): 127-34, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26467025
2.
Secondary mutation (c.94_95delAG) in a -α3.7 allele associated with Hb H disease in two unrelated African American individuals homozygous for the -α(3.7) deletion (-α3.7/-α3.7T).
Hemoglobin
; 36(1): 103-7, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22187958
3.
Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.
Genet Med
; 12(3): 162-73, 2010 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-20168238
4.
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
Biomed Res Int
; 2020: 3289023, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32090079
5.
Annotation error of a common ß°-thalassemia mutation (619 bp-deletion) has implications for molecular diagnosis.
Am J Hematol
; 85(12): 978, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-20960433
6.
Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.
J Mol Diagn
; 16(2): 273-9, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24508304
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