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Neuroradiology|August 13, 2016
Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysisA Al-Maawali, G Yoon, A S Feigenbaum, et al.Human Molecular Genetics|November 5, 1999
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasiaG Zhou, Y Chen, L Zhou, et al.Archives of Neurology|November 1, 1996
Limits of clinical assessment in the accurate diagnosis of Machado-Joseph diseaseI Lopes-Cendes, I Silveira, P Maciel, et al.American Journal of Medical Genetics|January 1, 1989
Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndromeJ S Bamforth, C O Leonard, B N Chodirker, et al.American Journal of Medical Genetics|October 1, 1993
Evidence for multi-site closure of the neural tube in humansM I Van Allen, D K Kalousek, G F Chernoff, et al.Intensive Care Medicine|July 11, 1998
Interleukin-6 levels in serum and lung lavage fluid of children undergoing open heart surgery correlate with postoperative morbidityG J Hauser, J Ben-Ari, M P Colvin, et al.Human Genetics|February 1, 1995
Genetic homogeneity of cartilage-hair hypoplasiaT Sulisalo, I van der Burgt, D L Rimoin, et al.Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|April 8, 2009
Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnosesM S Song, A Hu, U Dyamenahalli, et al.American Journal of Medical Genetics. Part A|May 27, 2010
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophyA M Lehman, P Eydoux, D Doherty, et al.American Journal of Medical Genetics|June 22, 1999
Early-infantile galactosialidosis: prenatal presentation and postnatal follow-upM S Patel, J W Callahan, S Zhang, et al.Pageof 27