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American Journal of Medical Genetics. Part A|August 25, 2004
Infantile systemic hyalinosis: a clinicopathological studyGermán Rodríguez Criado, Antonio González-Meneses, Manuela Cañadas, et al.American Journal of Medical Genetics. Part A|August 25, 2004
Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndromeYanick J Crow, R F Massey, J R Innes, et al.American Journal of Medical Genetics. Part A|September 17, 2004
Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22R Battini, A Battaglia, V Bertini, et al.American Journal of Medical Genetics. Part A|September 17, 2004
A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndromeMirka Marjanna Vuoristo, John Georgios Pappas, Valerie Jansen, et al.American Journal of Medical Genetics. Part A|September 16, 2004
Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndromeQingxue Wang, Masamichi Ito, Kathleen Adams, et al.American Journal of Medical Genetics. Part A|September 16, 2004
Septo-optic dysplasia with digital anomalies--a recurrent pattern syndromeIain M Harrison, Donal Brosnahan, Ethna Phelan, et al.American Journal of Medical Genetics. Part A|September 16, 2004
Eyelid myxoma in Carney complex without PRKAR1A allelic lossEkaterini T Tsilou, Chi-Chao Chan, Fabiano Sandrini, et al.American Journal of Medical Genetics. Part A|September 16, 2004
Candidate locus for Gilles de la Tourette syndrome/obsessive compulsive disorder/chronic tic disorder at 18q22Adam Cuker, Matthew W State, Robert A King, et al.American Journal of Medical Genetics. Part A|September 16, 2004
Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylviusL Bott, O Boute, K Mention, et al.American Journal of Medical Genetics. Part A|September 16, 2004
Brachydactyly and short stature in a kindred with early-onset parkinsonismMarieke C J Dekker, R J H Galjaard, P J L M Snijders, et al.Pageof 929