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1.
Translational genetics for diagnosis of human disorders of sex development.
Annu Rev Genomics Hum Genet
; 14: 371-92, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23875799
2.
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Genet Med
; 17(7): 578-86, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25356970
3.
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
BMC Med Genet
; 16: 102, 2015 Nov 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-26542245
4.
The plant pathogenesis related protein GLIPR-2 is highly expressed in fibrotic kidney and promotes epithelial to mesenchymal transition in vitro.
Matrix Biol
; 26(1): 20-9, 2007 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-17055234
5.
Acceleration of age-associated methylation patterns in HIV-1-infected adults.
PLoS One
; 10(3): e0119201, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25807146
6.
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
J Clin Endocrinol Metab
; 100(2): E333-44, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25383892
7.
Role of the nude gene in epithelial terminal differentiation.
J Invest Dermatol
; 118(2): 303-9, 2002 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-11841548
8.
Chitosan dressing promotes healing in third degree burns in mice: gene expression analysis shows biphasic effects for rapid tissue regeneration and decreased fibrotic signaling.
J Biomed Mater Res A
; 101(2): 340-8, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-22847951
9.
Foxn1 promotes keratinocyte differentiation by regulating the activity of protein kinase C.
Differentiation
; 75(8): 694-701, 2007 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-17459087
10.
CCN2 (Connective Tissue Growth Factor) is essential for extracellular matrix production and integrin signaling in chondrocytes.
J Cell Commun Signal
; 1(1): 45-58, 2007 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-18481209
11.
Analysis of the tight skin (Tsk1/+) mouse as a model for testing antifibrotic agents.
Lab Invest
; 85(10): 1199-209, 2005 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-16127425
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