Browsing by Author Chitayat, D

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TitleAuthor(s)Issue DateViews
 
2001
159
 
2014
92
 
2017
44
 
2008
64
 
2016
73
 
Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1
Proceeding/Conference:European Human Genetics Conference 2017
2017
33
 
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy
Journal:American Journal of Medical Genetics Part A
2010
95
 
2012
57
 
2010
100
 
2010
84
 
The first reported case of the DRAGON gene deletion in human. A case with a de-novo interstitial deletion of chromosome 5q15-21.1
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009
2009
65
 
From heterotaxy to VACTER-H syndrome: the clinical variability of ZIC3-related disorders
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009
2009
41
 
2009
17
 
From VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disorders
Journal:American Journal of Medical Genetics, Part A
2011
111
 
2014
56
 
Hand abnormalities in Loeys-Dietz syndrome: Expanding the clinical spectrum
Proceeding/Conference:33rd Annual David W. Smith Workshop
2012
34
Hand abnormalities in Loeys-Dietz syndrome: expanding the clinical spectrum
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2012
2012
42
 
2014
58
 
2003
141
 
In the shadow of MEF2C: Genotype-phenotype correlation for 5q14.3q21 deletions
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2013
2013
27