de Vries BB

Title : Cerebral visual impairment and intellectual disability caused by PGAP1 variants - Bosch_2015_Eur.J.Hum.Genet_23_1689

Author(s) : Bosch DG , Boonstra FN , Kinoshita T , Jhangiani S , de Ligt J , Cremers FP , Lupski JR , Murakami Y , de Vries BB

Ref : Eur J Hum Genet , 23 :1689 , 2015

Abstract :

PubMedSearch : Bosch_2015_Eur.J.Hum.Genet_23_1689

PubMedID: 25804403

Title : First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis - de Vries_1999_Prenat.Diagn_19_559

Author(s) : de Vries BB , Kleijer WJ , Keulemans JL , Voznyi YV , Franken PF , Eurlings MC , Galjaard RJ , Losekoot M , Catsman-Berrevoets CE , Breuning MH , Taschner PE , van Diggelen OP

Ref : Prenat Diagn , 19 :559 , 1999

Abstract :

PubMedSearch : de Vries_1999_Prenat.Diagn_19_559

PubMedID: 10416973

Gene_locus related to this paper: human-PPT1

de Vries BB

References (2)

1. Cerebral visual impairment and intellectual disability caused by PGAP1 variants - Bosch_2015_Eur.J.Hum.Genet_23_1689

2. First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis - de Vries_1999_Prenat.Diagn_19_559