Browsing by Author Chitayat, D

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TitleAuthor(s)Issue DateViews
 
2001
266
 
2014
66
 
2017
76
 
2008
108
 
2016
105
 
Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1
Proceeding/Conference:European Human Genetics Conference 2017
2017
50
 
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy
Journal:American Journal of Medical Genetics Part A
2010
77
 
2012
144
 
2020
36
 
2010
163
 
2010
180
 
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
60
 
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
45
 
2009
25
 
From VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disorders
Journal:American Journal of Medical Genetics, Part A
2011
199
 
2014
51
 
Hand abnormalities in Loeys-Dietz syndrome: Expanding the clinical spectrum
Proceeding/Conference:33rd Annual David W. Smith Workshop
2012
39
Hand abnormalities in Loeys-Dietz syndrome: expanding the clinical spectrum
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2012
2012
43
 
2014
64
 
2021
1