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American Journal of Medical Genetics|July 1, 1989
Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome)E R Limber, G H Bresnick, R M Lebovitz, et al.The Journal of Pediatrics|December 1, 1977
Heterogeneity of nonlethal severe short-limbed dwarfismG Romeo, J Zonana, D L Rimoin, et al.Neurology|April 26, 2001
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain diseaseB Cormand, H Pihko, M Bayés, et al.Clinical Neuropathology|January 1, 1990
Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA)S M Chou, E F Gilbert, R W Chun, et al.American Journal of Medical Genetics|December 1, 1990
"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatmentF Lalatta, D Clerici Bagozzi, M G Salmoiraghi, et al.AJNR. American Journal of Neuroradiology|December 3, 2021
ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical DevelopmentS Subramanian, A Biswas, C A P F Alves, et al.Journal of Applied Toxicology : JAT|February 1, 1988
The effects of caffeine on the ultrastructure and mitochondrial function of the embryonic chick heartH J Bruyere, J J Noonan, S Dong, et al.European Journal of Human Genetics : EJHG|January 17, 2003
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndromeM I Kavamura, M G Pomponi, M Zollino, et al.American Journal of Medical Genetics|April 1, 1984
Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndromeH Chen, L Immken, R Lachman, et al.Annals of Neurology|February 9, 2000
Genetic and neuroradiological heterogeneity of double cortex syndromeJ G Gleeson, R F Luo, P E Grant, et al.Pageof 40