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Bioinformatics (Oxford, England)|October 20, 2000
eSAGE: managing and analysing data generated with serial analysis of gene expression (SAGE)E H Margulies, J W Innis
American Journal of Human Genetics|June 7, 2000
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndromeF R Goodman, C Bacchelli, A F Brady, et al.
Nucleic Acids Research|June 19, 2001
Identification and prevention of a GC content bias in SAGE librariesE H Margulies, S L Kardia, J W Innis
American Journal of Medical Genetics|February 5, 1998
Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teethJ W Innis, P A Sieving, P McMillan, et al.
Developmental Biology|January 8, 2000
Severe limb defects in Hypodactyly mice result from the expression of a novel, mutant HOXA13 proteinL C Post, E H Margulies, A Kuo, et al.
American Journal of Medical Genetics|August 8, 1997
Autosomal dominant microcephaly with normal intelligence, short palpebral fissures, and digital anomaliesJ W Innis, J H Asher, A K Poznanski, et al.
American Journal of Human Genetics|June 30, 2001
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes diseaseS L Dagenais, A N Adam, J W Innis, et al.
Journal of Medical Genetics|April 16, 1998
Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7M L Carey, T B Friedman, J H Asher, et al.
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