about
Global implementation of genomic medicine: We are not aloneA familial heterozygous null mutation of MET in autism spectrum disorderSevere congenital microcephaly with AP4M1 mutation, a case report.Microcephaly risk with RUSC2.Autosomal recessive primary microcephaly due to ASPM mutations: An update.RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population[Genetics of hearing disorders in children]Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathwaysLow Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses[Intellectual disability: contribution of genetic studies to the etiological diagnosis]Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindnessPhenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Marc Abramowicz
@ast
Marc Abramowicz
@en
Marc Abramowicz
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Marc Abramowicz
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type
label
Marc Abramowicz
@ast
Marc Abramowicz
@en
Marc Abramowicz
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Marc Abramowicz
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prefLabel
Marc Abramowicz
@ast
Marc Abramowicz
@en
Marc Abramowicz
@es
Marc Abramowicz
@nl
P108
P106
P108
P1153
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P21
P31
P496
0000-0003-0623-8768