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Małgorzata J M Nowaczyk Selected Research

7-dehydrocholesterol reductase

7/2007Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.
7/2005Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
3/2004Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.
2/2002Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.

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Małgorzata J M Nowaczyk Research Topics

Disease

8Smith-Lemli-Opitz Syndrome
11/2012 - 02/2002
2Floating-harbor syndrome
01/2021 - 02/2012
2Neurodevelopmental Disorders
01/2021 - 01/2021
2Intellectual Disability (Idiocy)
11/2012 - 05/2012
1Microcephaly
04/2021
1Language Development Disorders (Semantic-Pragmatic Disorder)
01/2021
1Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi)
02/2012
1Micrognathism
10/2004

Drug/Important Bio-Agent (IBA)

7CholesterolIBA
11/2012 - 02/2002
47-dehydrocholesterol reductaseIBA
07/2007 - 02/2002
2Proteins (Proteins, Gene)FDA Link
01/2021 - 02/2012
1Leucine (L-Leucine)FDA Link
04/2021
1Branched-Chain Amino AcidsIBA
04/2021
1Adenosine Triphosphatases (ATPase)IBA
01/2021
1ChromatinIBA
01/2021
17-dehydrocholesterolIBA
11/2012
1Oxidoreductases (Dehydrogenase)IBA
11/2012
1CREB-Binding ProteinIBA
02/2012
1Biomarkers (Surrogate Marker)IBA
10/2004