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American Journal of Medical Genetics. Part A|September 27, 2014
Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formationJ Milosevic, L El Khattabi, A Roubergue, et al.American Journal of Medical Genetics. Part A|September 27, 2014
Possible preventive effect of high doses of folic acid for isolated hypospadias: a national population-based case-control studyStelios Mavrogenis, Róbert Urban, Andrew E Czeizel, et al.American Journal of Medical Genetics. Part A|September 27, 2014
A 13-year-old boy with a 7q36.1q36.3 deletion with additional findingsCha Hyohyeon, Cha Gon LeeAmerican Journal of Medical Genetics. Part A|September 27, 2014
CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defectsNicole Corsten-Janssen, Gideon J du Marchie Sarvaas, Wilhelmina S Kerstjens-Frederikse, et al.American Journal of Medical Genetics. Part A|September 27, 2014
Effect of lovastatin on behavior in children and adults with fragile X syndrome: an open-label studyArtuela Çaku, David Pellerin, Paméla Bouvier, et al.American Journal of Medical Genetics. Part A|September 27, 2014
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contracturesJulien Thevenon, Nicole Monnier, Patrick Callier, et al.American Journal of Medical Genetics. Part A|November 18, 2014
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short statureNolwenn Jean-Marçais, Matthieu Decamp, Marion Gérard, et al.American Journal of Medical Genetics. Part A|November 18, 2014
Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defectsMarie-Luise Brennan, Margaret P Adam, Laurie H Seaver, et al.American Journal of Medical Genetics. Part A|October 24, 2014
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: a study of intrafamilial and interfamilial variability in 23 Italian pedigreesMarco Castori, Chiara Dordoni, Michele Valiante, et al.American Journal of Medical Genetics. Part A|August 18, 2017
Paternal transmission of a FMR1 full mutation alleleMaria Isabel Alvarez-Mora, Miriam Guitart, Laia Rodriguez-Revenga, et al.Pageof 929