Unen, Leontine
34  Ergebnisse:
Personensuche X
?
2

Heterogeneous clinical phenotypes and cerebral malformation..:

Vandervore, Laura ; Schot, Rachel ; Kasteleijn, Esmee...
Vandervore , L , Schot , R , Kasteleijn , E , Oegema , R , Stouffs , K , Gheldof , A , Grochowska , M , Sterre , M , Unen , L , Wilke , M , Elfferich , P , van der Spek , P , Heijsman , D , Grandone , A , Demmers , J , Dekkers , D , Slotman , J , Kremers , G-J , Schaaf , G , Masius , R , van Essen , AJ , Rump , P , van Haeringen , A , Peeters , E , Altunoglu , U , Kalayci , T , Poot , R , Dobyns , WB , Bahi-Buisson , N , Verheijen , F , Jansen , AC & Verheijen - Mancini , G 2019 , ' Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics ' , Brain , vol. 142 , pp. 867-884 . https://doi.org/10.1093/brain/awz045.  , 2019
 
?
3

Variants in members of the cadherin-catenin complex, CDH1 a..:

Kievit, Anneke ; Tessadori, Federico ; Douben, Hannie...
Kievit , A , Tessadori , F , Douben , H , Jordens , I , Maurice , M , Hoogeboom , J , Hennekam , R , Nampoothiri , S , Kayserili , H L , Castori , M , Whiteford , M , Motter , C , Melver , C , Cunningham , M , Hing , A , Kokitsu-Nakata , N M , Vendramini-Pittoli , S , Richieri-Costa , A , Baas , A F , Breugem , C C , Duran , K , Massink , M , Derksen , P W B , van Ijcken , W F J , van Unen , L , Santos-Simarro , F , Lapunzina , P , Gil-da Silva Lopes , V L , Lustosa-Mendes , E , Krall , M , Slavotinek , A , Martinez-Glez , V , Bakkers , J , van Gassen , K L I , de Klein , A , van den Boogaard , M-J H & van Haaften , G 2018 , ' Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome /692/699 /631/208/1516 article ' , European Journal of Human Genetics , vol. 26 , no. 2 , pp. 210-219 . https://doi.org/10.1038/s41431-017-0010-5.  , 2018
 
?
5

Human mutations in integrator complex subunits link transcr..:

Oegema, Renske ; Baillat, D ; Schot, Rachel...
Oegema , R , Baillat , D , Schot , R , Unen , L , Brooks , A , Kheradmand Kia , S , Hoogeboom , J , Xia , Z , Li , W , Cesaroni , M , Lequin , MH , van Slegtenhorst , M , Dobyns , WB , Coo , IFM , Verheijen , F , Kremer , A , van der Spek , P , Heijsman , D , Wagner , EJ , Fornerod , M W J & Verheijen - Mancini , G 2017 , ' Human mutations in integrator complex subunits link transcriptome integrity to brain development ' , PLoS Genetics (online) , vol. 13 , no. 5 , e1006809 . https://doi.org/10.1371/journal.pgen.1006809.  , 2017
 
?
9

Human USP18 deficiency underlies type 1 interferonopathy le..:

Meuwissen, Marije E.C ; Schot, Rachel ; Buta, Sofija...
info:eu-repo/semantics/altIdentifier/doi/10.1084/jem.20151529.  , 2016
 
?
10

Human USP18 deficiency underlies type 1 interferonopathy le..:

Meuwissen, Marije ; Schot, Rachel ; Buta, S...
Meuwissen , M , Schot , R , Buta , S , Oudesluijs , G , Tinschert , S , Speer , SD , Li , Z , Unen , L , Heijsman , D , Goldmann , T , Lequin , MH , Kros , J M , Stam , W , Hermann , M , Willemsen , R , Brouwer , R , van Ijcken , W , Martin-Fernandez , M , Coo , IFM , Dudink , J , Vries , F , Bertoli Avella , AM , Prinz , M , Crow , YJ , Verheijen , F , Pellegrini , S , Bogunovic , D & Verheijen - Mancini , G 2016 , ' Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TOR CH syndrome ' , Journal of Experimental Medicine , vol. 213 , no. 7 , pp. 1163-1174 . https://doi.org/10.1084/jem.20151529.  , 2016
 
?
11

Human USP18 deficiency underlies type 1 interferonopathy le..:

Meuwissen, Marije E.C ; Schot, Rachel ; Buta, Sofija...
info:eu-repo/semantics/altIdentifier/doi/10.1084/jem.20151529.  , 2016
 
?
12

Human USP18 deficiency underlies type 1 interferonopathy le..:

Meuwissen, Marije E.C ; Schot, Rachel ; Buta, Sofija...
info:eu-repo/semantics/altIdentifier/doi/10.1084/jem.20151529.  , 2016
 
1-15