about
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disordersLactobacillus delbrueckii ssp. lactis and ssp. bulgaricus: a chronicle of evolution in action.Genome Sequence of Lactobacillus delbrueckii subsp. lactis CNRZ327, a Dairy Bacterium with Anti-Inflammatory PropertiesMutations and genomic islands can explain the strain dependency of sugar utilization in 21 strains of Propionibacterium freudenreichiiA de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.A framework to identify contributing genes in patients with Phelan-McDermid syndrome.IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsDe Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasCHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageBoth rare and common genetic variants contribute to autism in the Faroe IslandsAssociation of modifiers and other genetic factors explain Marfan syndrome clinical variabilityIntronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literatureNovel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizuresDe novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features
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description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Julien Buratti
@en
Julien Buratti
@nl
type
label
Julien Buratti
@en
Julien Buratti
@nl
prefLabel
Julien Buratti
@en
Julien Buratti
@nl
P31
P496
0000-0002-0901-0905