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Muscle & Nerve|March 1, 1992
A congenital myasthenic syndrome refractory to acetylcholinesterase inhibitorsW J Triggs, A Beric, I J Butler, et al.
Journal of Inherited Metabolic Disease|January 1, 1989
Neurological deterioration in adult phenylketonuriaD Villasana, I J Butler, J C Williams, et al.
Journal of Child Neurology|October 6, 1997
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second familyA Maller, K Hyland, S Milstien, et al.
American Journal of Human Genetics|June 1, 1993
Nonsyndromic cleft lip and palate: no evidence of linkage to HLA or factor 13AJ T Hecht, Y Wang, B Connor, et al.
Annals of Neurology|May 1, 1988
Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmittersJ Jankovic, T C Caskey, J T Stout, et al.
American Journal of Medical Genetics|November 1, 1991
Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlatesJ T Hecht, N M Thompson, T Weir, et al.
Journal of Dental Research|May 7, 2014
Functional Significance of MMP3 and TIMP2 Polymorphisms in Cleft Lip/PalateA Letra, M Zhao, R M Silva, et al.
Prenatal Diagnosis|August 1, 1997
Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblingsB M Drinkwater, J P Crino, J Garcia, et al.
Clinical Orthopaedics and Related Research|January 11, 2000
Involvement of the humerus in two generations with spondyloepiphyseal dysplasiaU Givon, S J Kumar, C I Scott
Clinical Dysmorphology|October 1, 1996
Bilateral duplication of the primary ulnar ossification center in Ellis-van Creveld syndromeK W Gripp, C I Scott, L Nicholson
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