Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1960 1
1964 1
1965 1
1966 2
1967 1
1968 1
1969 2
1971 2
1972 2
1973 1
1975 2
1977 1
1979 1
1983 3
1984 2
1985 1
1986 2
1987 5
1988 1
1989 1
1990 1
1991 1
1992 2
1993 2
1994 7
1995 6
1996 5
1997 12
1998 8
1999 5
2000 4
2001 9
2003 2
2004 2
2006 3
2007 1
2008 1
2010 2
2011 1
2012 2
2013 1
2016 1
2017 1
2024 0

Text availability

Article attribute

Article type

Publication date

PubMed (cited) for id: 270400

108 results

Results by year

Filters applied: . Clear all
Page 1
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.
Kalb S, Caglayan AO, Degerliyurt A, Schmid S, Ceylaner S, Hatipoglu N, Hinderhofer K, Rehder H, Kurtoglu S, Ceylaner G, Zschocke J, Witsch-Baumgartner M. Kalb S, et al. Clin Genet. 2012 Jun;81(6):598-601. doi: 10.1111/j.1399-0004.2011.01750.x. Epub 2011 Dec 28. Clin Genet. 2012. PMID: 22211794 No abstract available.
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, 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 PJ, Wollnik B, Krawczak M, Labuda D, Utermann G. Witsch-Baumgartner M, et al. J Med Genet. 2008 Apr;45(4):200-9. doi: 10.1136/jmg.2007.053520. Epub 2007 Oct 26. J Med Genet. 2008. PMID: 17965227
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.
Witsch-Baumgartner M, Gruber M, Kraft HG, Rossi M, Clayton P, Giros M, Haas D, Kelley RI, Krajewska-Walasek M, Utermann G. Witsch-Baumgartner M, et al. J Med Genet. 2004 Aug;41(8):577-84. doi: 10.1136/jmg.2004.018085. J Med Genet. 2004. PMID: 15286151 Free PMC article.
108 results