Karin Buiting Selected Research

snRNP Core Proteins

1/2018	[Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome].
10/2006	Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR.
5/2004	SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.

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Karin Buiting Research Topics

Disease

5	Prader-Willi Syndrome (Syndrome, Prader-Willi) 01/2018 - 02/2005
3	Angelman Syndrome (Syndrome, Angelman) 10/2016 - 05/2004
2	Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome) 10/2016 - 03/2008
1	Imprinting Disorders 10/2016
1	Temple syndrome 10/2015
1	Male Infertility (Male Sterility) 03/2015
1	Trisomy (Trisomies) 01/2014
1	Birth Weight (Birth Weights) 01/2009
1	X-Linked Combined Immunodeficiency Diseases (X Linked Severe Combined Immunodeficiency) 11/2008
1	Telecanthus 03/2008
1	Syndactyly (Polysyndactyly) 03/2008
1	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 09/2007
1	Obesity 10/2006
1	Hyperphagia (Overeating) 10/2003

Drug/Important Bio-Agent (IBA)

3	snRNP Core ProteinsIBA 01/2018 - 05/2004
3	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 01/2009
3	hydrogen sulfite (bisulfite)IBA 10/2015 - 03/2008
2	Small Nucleolar RNA (snoRNA)IBA 02/2005 - 05/2004
1	SilverIBA 10/2016
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 10/2016
1	Genetic Markers (Genetic Marker)IBA 01/2014
1	Proteins (Proteins, Gene)FDA Link 09/2012
1	Interleukin Receptor Common gamma SubunitIBA 11/2008
1	CyclinsIBA 03/2008
1	ChromatinIBA 01/2008
1	Nonsense Codon (Nonsense Mutation)IBA 09/2007
1	A-Form DNA (A-DNA)IBA 06/2006
1	secretoneurinIBA 10/2003
1	Dopamine (Intropin)FDA LinkGeneric 10/2003
1	Messenger RNA (mRNA)IBA 10/2003
1	Secretogranin IIIBA 10/2003

Therapy/Procedure

1	Ligation 01/2018
1	Lasers (Laser) 01/2008