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American Journal of Medical Genetics|May 7, 2002
New perspectives on the face in fetal alcohol syndrome: what anthropometry tells usElizabeth S Moore, Richard E Ward, Paul L Jamison, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|September 19, 2008
Preaxial hallucal polydactyly as a marker for diabetic embryopathyMargaret P Adam, Louanne Hudgins, John C Carey, et al.
American Journal of Medical Genetics. Part A|February 24, 2011
Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathyKaren W Gripp, Ranita Kuryan, Rhonda E Schnur, et al.
American Journal of Medical Genetics. Part A|October 14, 2003
A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13John M Graham, Patricia Wheeler, Darci Tackels-Horne, et al.
American Journal of Medical Genetics. Part A|December 31, 2003
Unexpected death and critical illness in Prader-Willi syndrome: report of ten individualsDavid A Stevenson, Theresa M Anaya, Jill Clayton-Smith, et al.
American Journal of Medical Genetics. Part A|December 23, 2011
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delayEric A Muller, Swaroop Aradhya, Joan F Atkin, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea Armstrong, Azza Abd El Moneim, Kirk Aleck, et al.
Nature Genetics|February 28, 2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeJeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, et al.
American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
Human Molecular Genetics|January 10, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceFrank J Kaiser, Morad Ansari, Diana Braunholz, et al.
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