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1.
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
Hum Mutat
; 37(11): 1162-1179, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27435373
2.
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
Hum Mutat
; 31(5): 578-87, 2010 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-20186688
3.
Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density.
Horm Res Paediatr
; 85(6): 412-20, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26925581
4.
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
Mol Genet Genomic Med
; 3(4): 327-45, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-26247049
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