Quesne Stabej, Polona Le
23  results:
Search for persons X
?
 
?
 
?
6

A recessive PRDM13 mutation results in congenital hypogonad..:

Whittaker, Danielle E ; Oleari, Roberto ; Gregory, Louise C...
Whittaker , D E , Oleari , R , Gregory , L C , Le Quesne Stabej , P , Williams , H J , Torpiano , J G , Formosa , N , Cachia , M J , Field , D , Lettieri , A , Ocaka , L A , Paganoni , A J J , Rajabali , S H , Riegman , K L H , De Martini , L B , Chaya , T , Robinson , I C , Furukawa , T , Cariboni , A , Basson , M A & Dattani , M T 2021 , ' A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia ' , The Journal of clinical investigation , vol. 131 , no. 24 , e141587 . https://doi.org/10.1172/JCI141587.  , 2021
 
?
7

A recessive PRDM13 mutation results in congenital hypogonad..:

Whittaker, Danielle E ; Oleari, Roberto ; Gregory, Louise C...
Whittaker , D E , Oleari , R , Gregory , L C , Le Quesne Stabej , P , Williams , H J , Torpiano , J G , Formosa , N , Cachia , M J , Field , D , Lettieri , A , Ocaka , L A , Paganoni , A J J , Rajabali , S H , Riegman , K L H , De Martini , L B , Chaya , T , Robinson , I C , Furukawa , T , Cariboni , A , Basson , M A & Dattani , M T 2021 , ' A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia ' , The Journal of clinical investigation , vol. 131 , no. 24 , e141587 . https://doi.org/10.1172/JCI141587.  , 2021
 
?
 
?
9

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V...
Ministerio de Economía y Competitividad SAF2015-66831-R.  , 2018
 
?
10

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V...
SFB 1002: Modulatorische Einheiten bei Herzinsuffizienz.  , 2018
 
?
 
?
 
1-15