Browsing by Author Chitayat, D

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Showing results 1 to 20 of 34  next >
TitleAuthor(s)Issue DateViews
 
2001
141
 
2014
72
 
2017
5
 
2008
52
 
2016
33
 
Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1
Proceeding/Conference:European Human Genetics Conference 2017
2017
7
 
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy
Journal:American Journal of Medical Genetics Part A
2010
115
 
2012
50
 
2010
61
 
2010
62
 
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
51
 
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
30
 
2009
8
 
From VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disorders
Journal:American Journal of Medical Genetics, Part A
2011
79
 
2014
45
Hand abnormalities in Loeys-Dietz syndrome: expanding the clinical spectrum
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2012
2012
45
 
Hand abnormalities in Loeys-Dietz syndrome: Expanding the clinical spectrum
Proceeding/Conference:33rd Annual David W. Smith Workshop
2012
31
 
2014
40
 
2003
83
 
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
25