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1.
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization.
Am J Med Genet A
; 155A(5): 1152-6, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21485001
2.
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes.
Prenat Diagn
; 31(8): 778-87, 2011 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-21692086
3.
A tale of two deletions: a report of two novel 20p13 --> pter deletions.
Am J Med Genet A
; 152A(4): 1000-7, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-20358616
4.
Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray.
Prenat Diagn
; 29(12): 1156-66, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19795450
5.
A comparative analysis of ethical and professional challenges experienced by Australian and U.S. genetic counselors.
J Genet Couns
; 18(4): 379-94, 2009 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-19452265
6.
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
Eur J Hum Genet
; 18(11): 1196-201, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-20588305
7.
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens.
Prenat Diagn
; 28(9): 789-95, 2008 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-18646242
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