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Clinical Genetics|October 19, 2007
Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobeR S Møller, C P Hansen, G D Jackson, et al.
Human Genetics|November 10, 2001
DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elementsR Kirschner, D Erturk, C Zeitz, et al.
Human Genetics|January 1, 1983
Regional localization of the human factor IX gene by molecular hybridizationP F Chance, K A Dyer, K Kurachi, et al.
Neurology|January 1, 1991
Genetic linkage with chromosome 19 but not chromosome 17 in a family with myotonic dystrophy associated with hereditary motor and sensory neuropathyH G Brunner, F Spaans, H J Smeets, et al.
The Journal of Investigative Dermatology|September 1, 1994
Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativaP M Steijlen, H Kremer, F Vakilzadeh, et al.
Clinical Genetics|January 1, 1984
Ichthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testingH Traupe, C R Müller-Migl, G Kolde, et al.
Human Genetics|December 1, 1989
Physical fine-mapping of a deletion spanning the Norrie geneP J Diergaarde, B Wieringa, E M Bleeker-Wagemakers, et al.
Clinical Genetics|April 24, 2010
Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndromeB Budny, M Badura-Stronka, A Materna-Kiryluk, et al.
Genomics|June 1, 1997
Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetusesA M Riesewijk, L Hu, U Schulz, et al.
American Journal of Medical Genetics|July 12, 1996
Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findingsB C Hamel, A P Smits, B J Otten, et al.
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