about
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndromeTruncating mutations in APP cause a distinct neurological phenotype.Conserved family of glycerol kinase loci in Drosophila melanogasterGenetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency.Extracellular matrix-modulated Heartless signaling in Drosophila blood progenitors regulates their differentiation via a Ras/ETS/FOG pathway and target of rapamycin function.Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.Stem cell niche dynamics: from homeostasis to carcinogenesis.Interaction between differentiating cell- and niche-derived signals in hematopoietic progenitor maintenance.Effects of mTOR Inhibitors on Components of the Salvador-Warts-Hippo Pathway.A Hedgehog- and Antennapedia-dependent niche maintains Drosophila haematopoietic precursors.B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation.De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.Nomenclature and definition in asymmetric regional body overgrowth.Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.Phenotypic progression of skeletal anomalies in CLOVES syndromeAutistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and reviewHemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetryMutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathwayPhenotype delineation of ZNF462 related syndromeIs polycystic kidney disease associated with malignancy in children?
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Julian Martinez-agosto
@ast
Julian Martinez-agosto
@en
Julian Martinez-agosto
@es
Julian Martinez-agosto
@nl
Julian Martinez-agosto
@sl
type
label
Julian Martinez-agosto
@ast
Julian Martinez-agosto
@en
Julian Martinez-agosto
@es
Julian Martinez-agosto
@nl
Julian Martinez-agosto
@sl
prefLabel
Julian Martinez-agosto
@ast
Julian Martinez-agosto
@en
Julian Martinez-agosto
@es
Julian Martinez-agosto
@nl
Julian Martinez-agosto
@sl
P106
P21
P31
P496
0000-0001-6776-6949