about
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutationsSim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice.SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake.Sim1 haploinsufficiency impairs melanocortin-mediated anorexia and activation of paraventricular nucleus neurons.Zonisamide in the treatment of epilepsy.Exonic deletion of SLC9A9 in autism with epilepsy.Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them.A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome.A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome.Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression
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description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Jimmy Holder
@ast
Jimmy Holder
@en
Jimmy Holder
@es
Jimmy Holder
@nl
Jimmy Holder
@sl
type
label
Jimmy Holder
@ast
Jimmy Holder
@en
Jimmy Holder
@es
Jimmy Holder
@nl
Jimmy Holder
@sl
prefLabel
Jimmy Holder
@ast
Jimmy Holder
@en
Jimmy Holder
@es
Jimmy Holder
@nl
Jimmy Holder
@sl
P106
P1153
7102324061
P21
P31
P496
0000-0001-5595-0458