about
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutationsCoinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the bodyA homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functionsBiallelic variants in SMAD6 are associated with a complex cardiovascular phenotypeThe homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
P50
Q52633375-38B78B8D-B405-4B3A-9638-36FF4E46B391Q52739043-6900B58D-FD59-4DC3-B0C7-4435D3161B43Q64039834-7F9691FF-10BD-4DAC-8E09-B754F6CA0625Q89278017-D3D0667E-2673-4A4A-BCDF-07D6B9D4BC86Q90356350-F3DA67EE-FA18-4F72-88AB-D44B4AD0B1ADQ92958996-B9C2F566-268F-4139-8739-1A91792B1855Q93387819-5EE834E0-029C-4760-ABC9-A5C75EC2DB4D
P50
description
researcher (ORCID 0000-0001-8494-8963)
@en
wetenschapper
@nl
name
Kerstin Kutsche
@en
Kerstin Kutsche
@nl
type
label
Kerstin Kutsche
@en
Kerstin Kutsche
@nl
prefLabel
Kerstin Kutsche
@en
Kerstin Kutsche
@nl
P31
P496
0000-0001-8494-8963