Published in Am J Hum Genet on March 01, 1997
Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet (2010) 1.35
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Mouse Zic1 is involved in cerebellar development. J Neurosci (1998) 1.60
Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum Mol Genet (1996) 1.59
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Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus. Am J Med Genet (1996) 1.49
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Nontraumatic bilateral rupture of patellar tendons in a diabetic dialysis patient with secondary hyperparathyroidism. Nephrol Dial Transplant (1997) 1.45
Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU). J Inherit Metab Dis (2012) 1.45
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A region on chromosome 3 is linked to dizygotic twinning. Nat Genet (2000) 1.44
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Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere. Am J Hum Genet (2000) 1.42
A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q. Hum Mol Genet (2001) 1.42
Buoyant sustained release granules based on chitosan. Drug Des Deliv (1989) 1.42
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21. Am J Hum Genet (1997) 1.41
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Seizures during treatment of Vitamin B12 deficiency. Seizure (2006) 1.39
Hypothermia from azithromycin. J Toxicol Clin Toxicol (1997) 1.39
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Xenopus Zic3, a primary regulator both in neural and neural crest development. Proc Natl Acad Sci U S A (1997) 1.33
Genomewide scan in german families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13. Am J Hum Genet (2000) 1.30