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1.
Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort.
Am J Hum Genet
; 105(4): 734-746, 2019 10 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31585106
2.
A common polymorphism in the upstream promoter region of the hepatocyte nuclear factor-4 alpha gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for linkage in an ashkenazi jewish population.
Diabetes
; 53(4): 1134-40, 2004 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-15047632
3.
Common variants of the hepatocyte nuclear factor-4alpha P2 promoter are associated with type 2 diabetes in the U.K. population.
Diabetes
; 53(11): 3002-6, 2004 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-15504983
4.
A Multimodality Approach to Assessing Factor I Genetic Variants in Atypical Hemolytic Uremic Syndrome.
Kidney Int Rep
; 4(7): 1007-1017, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-31312772
5.
Evidence of common ancestry for the maple syrup urine disease (MSUD) Y438N allele in non-Mennonite MSUD patients.
Mol Genet Metab
; 75(1): 79-90, 2002 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-11825067
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