Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

The needs of people with intellectual disabilities have often been overlooked in programmes designed to reach disabled people in general.. They themselves are calling for

NA=not available or not applicable; F= female; M=male; m= months; y=years; ADHD= attention deficit hyperactivitiy disorder; ASD = autistic spectrum disorder; EE=

I t adv ocates a reasonable use of personal accounts of research to explain the conditions of production of knowledge and dev elop com parability between studies... They work and

By using exome and capillary sequencing, we here identify biallelic UBE3B mutations in four patients from three unrelated fami- lies presenting an

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9- associated intellectual disability... Germain 2,3 ● Gwenaël Nadeau 4 ● Jacques

My thesis is based on the study case of Asian chestnut gall wasp (Dryocosmus kuriphilus) invasion in southern Switzerland to present the evolution of an agroforestry system from

Les pertes au cours d’une journée par l’apport de l’eau d’appoint et par extraction du distillat évaluées à 0.75% environ sont relativement faibles et peuvent par

Cette étude inclue la lecture analytique historique sur l'aspect important de l'Etat et son émergence sur la scène est celui du côté économique, Al Hisba comme axe important est