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Query Trace: Mental Retardation and DHCR7[original query]

Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects. European journal of medical genetics 2022 1 65 (2): 104426. Orlov Igor E, Laidus Tatiana A, Tumakova Anastasia V, Yanus Grigoriy A, Iyevleva Aglaya G, Sokolenko Anna P, Bizin Ilya V, Imyanitov Evgeny N, Suspitsin Evgeny Similar articles in PubMed
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. Journal of medical genetics 2008 Apr 45 (4): 200-9. Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley R I, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud P J, Wollnik B, Krawczak M, Labuda D, Utermann Similar articles in PubMed
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. Journal of medical genetics 2004 Aug 41 (8): 577-84. Witsch-Baumgartner M, Gruber M, Kraft H G, Rossi M, Clayton P, Giros M, Haas D, Kelley R I, Krajewska-Walasek M, Utermann Similar articles in PubMed