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View article: <scp>SCYL2</scp> ‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond?
<span>SCYL2</span> ‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond? Open
SCY1‐like protein 2 ( SCYL2 ) is a member of the SCY1‐like pseudokinase family which regulates secretory protein trafficking. It plays a crucial role in the nervous system by suppressing excitotoxicity in the developing brain. Scyl2 knocko…
View article: Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly Open
View article: Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network Open
View article: Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20 Open