Full name :
First name :
Mail :
Zip Code :
City :
Country :
Email :
Phone :
Fax :
Website :
Directory :
| Title : Respiratory insufficiency as a presenting symptom of congenital myasthenic syndromes - van den Udenhout_2023_Acta.Paediatr__ |
| Author(s) : van den Udenhout F , Merkus P , Verhaagen-van den Akker S , Schouten M , Erasmus C , Braakman H |
| Ref : Acta Paediatr , : , 2023 |
| Abstract : van den Udenhout_2023_Acta.Paediatr__ |
| ESTHER : van den Udenhout_2023_Acta.Paediatr__ |
| PubMedSearch : van den Udenhout_2023_Acta.Paediatr__ |
| PubMedID: 36718955 |
| Title : PREPL deficiency: delineation of the phenotype and development of a functional blood assay - Regal_2018_Genet.Med_20_109 |
| Author(s) : Regal L , Martensson E , Maystadt I , Voermans N , Lederer D , Burlina A , Juan Fita MJ , Hoogeboom AJM , Olsson Engman M , Hollemans T , Schouten M , Meulemans S , Jonson T , Francois I , Gil Ortega D , Kamsteeg EJ , Creemers JWM |
| Ref : Genet Med , 20 :109 , 2018 |
| Abstract : Regal_2018_Genet.Med_20_109 |
| ESTHER : Regal_2018_Genet.Med_20_109 |
| PubMedSearch : Regal_2018_Genet.Med_20_109 |
| PubMedID: 28726805 |
| Gene_locus related to this paper: human-PREPL |