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Human Genetics|December 18, 1998
Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of XpB Fritz, W Küster, K H Orstavik, et al.Journal of Medical Microbiology|January 7, 1999
Detection of JC virus in two African cases of progressive multifocal leukoencephalopathy including identification of JCV type 3 in a Gambian AIDS patientG L Stoner, H T Agostini, C F Ryschkewitsch, et al.Nature Genetics|September 1, 1993
The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humansV M Kalscheuer, E C Mariman, M T Schepens, et al.Clinical Genetics|May 22, 2008
Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family studyF Laccone, M C Hannibal, J Neesen, et al.European Journal of Human Genetics : EJHG|February 13, 2002
Low incidence of UPD in spontaneous abortions beyond the 5th gestational weekB Fritz, M Aslan, V Kalscheuer, et al.American Journal of Medical Genetics|October 21, 1999
Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2B Streubel, E Latta, H Kehrer-Sawatzki, et al.American Journal of Medical Genetics|February 15, 1993
New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defectsG Gillessen-Kaesbach, P Meinecke, C Garrett, et al.Clinical Genetics|October 16, 2007
A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndromeB Auber, P Burfeind, S Herold, et al.Journal of Neuropathology and Experimental Neurology|January 1, 1992
Adult polyglucosan body myopathyH H Goebel, Y S Shin, F Gullotta, et al.Muscle & Nerve|March 1, 1980
Autosomal recessive generalized myotoniaH Zellweger, L Pavone, A Biondi, et al.Pageof 22