about
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayMutations in GRIP1 cause Fraser syndromeSynaptic activity controls localization and function of CtBP1 via binding to Bassoon and PiccoloBehavioral and Neural Manifestations of Reward Memory in Carriers of Low-Expressing versus High-Expressing Genetic Variants of the Dopamine D2 Receptor.GPFrontend and GPGraphics: graphical analysis tools for genetic association studies.Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expressionManitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesWDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II ErrorsMutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.CTLA-4-mediated posttranslational modifications direct cytotoxic T-lymphocyte differentiation.Corrigendum: Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression.Two naturally occurring variants of the serotonin receptor gene HTR3C are associated with nausea in pregnancy.Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.Evaluation of conserved and ultra-conserved non-genic sequences in chromosome 15q15-linked periodic catatonia.Genetic Polymorphisms as Predictive Markers of Response to Growth Hormone Therapy in Children with Growth Hormone Deficiency.Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disordersAblepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disordersElucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
P50
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P50
name
Denny Schanze
@en
Denny Schanze
@nl
type
label
Denny Schanze
@en
Denny Schanze
@nl
prefLabel
Denny Schanze
@en
Denny Schanze
@nl