Van Hoof, Evelien
68  Ergebnisse:
Personensuche X
?
2

BCAP31-related syndrome: The first de novo report:

Rinaldi, Berardo ; Van Hoof, Evelien ; Corveleyn, Anniek..
European Journal of Medical Genetics.  63 (2020)  2 - p. 103732 , 2020
 
?
3

Next-generation sequencing in prenatal setting: Some exampl..:

Rinaldi, Berardo ; Race, Valerie ; Corveleyn, Anniek...
European Journal of Medical Genetics.  63 (2020)  5 - p. 103875 , 2020
 
?
4

Heterozygous loss-of-function variants of MEIS2 cause a tri..:

DDD study ; Verheije, Rosalind ; Kupchik, Gabriel S....
European Journal of Human Genetics.  27 (2018)  2 - p. 278-290 , 2018
 
?
5

Massive parallel sequencing identifies RAPSN and PDHA1 muta..:

Winters, Lore ; Van Hoof, Evelien ; De Catte, Luc...
European Journal of Paediatric Neurology.  21 (2017)  5 - p. 745-753 , 2017
 
?
 
?
9

Consensus statement on standards and guidelines for the mol..:

Savige, Judy ; Storey, Helen ; Watson, Elizabeth...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-021-00858-1.  , 2021
 
?
10

Consensus statement on standards and guidelines for the mol..:

Savige, Judy ; Storey, Helen ; Watson, Elizabeth...
Savige , J , Storey , H , Watson , E , Hertz , J M , Deltas , C , Renieri , A , Mari , F , Hilbert , P , Plevova , P , Byers , P , Cerkauskaite , A , Gregory , M , Cerkauskiene , R , Ljubanovic , D G , Becherucci , F , Errichiello , C , Massella , L , Aiello , V , Lennon , R , Hopkinson , L , Koziell , A , Lungu , A , Rothe , H M , Hoefele , J , Zacchia , M , Martic , T N , Gupta , A , van Eerde , A , Gear , S , Landini , S , Palazzo , V , al-Rabadi , L , Claes , K , Corveleyn , A , Van Hoof , E , van Geel , M , Williams , M , Ashton , E , Belge , H , Ars , E , Bierzynska , A , Gangemi , C & Lipska-Ziętkiewicz , B S 2021 , ' Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome : refining the ACMG criteria ' , European Journal of Human Genetics , vol. 29 , no. 8 , pp. 1186-1197 . https://doi.org/10.1038/s41431-021-00858-1.  , 2021
 
?
11

Consensus statement on standards and guidelines for the mol..:

Savige, Judy ; Storey, Helen ; Watson, Elizabeth...
Savige , J , Storey , H , Watson , E , Hertz , J M , Deltas , C , Renieri , A , Mari , F , Hilbert , P , Plevova , P , Byers , P , Cerkauskaite , A , Gregory , M , Cerkauskiene , R , Ljubanovic , D G , Becherucci , F , Errichiello , C , Massella , L , Aiello , V , Lennon , R , Hopkinson , L , Koziell , A , Lungu , A , Rothe , H M , Hoefele , J , Zacchia , M , Martic , T N , Gupta , A , van Eerde , A , Gear , S , Landini , S , Palazzo , V , al-Rabadi , L , Claes , K , Corveleyn , A , Van Hoof , E , van Geel , M , Williams , M , Ashton , E , Belge , H , Ars , E , Bierzynska , A , Gangemi , C & Lipska-Ziętkiewicz , B S 2021 , ' Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome : refining the ACMG criteria ' , European Journal of Human Genetics , vol. 29 , no. 8 , pp. 1186-1197 . https://doi.org/10.1038/s41431-021-00858-1.  , 2021
 
?
12

Consensus statement on standards and guidelines for the mol..:

Savige, Judy ; Storey, Helen ; Watson, Elizabeth...
Savige , J , Storey , H , Watson , E , Hertz , J M , Deltas , C , Renieri , A , Mari , F , Hilbert , P , Plevova , P , Byers , P , Cerkauskaite , A , Gregory , M , Cerkauskiene , R , Ljubanovic , D G , Becherucci , F , Errichiello , C , Massella , L , Aiello , V , Lennon , R , Hopkinson , L , Koziell , A , Lungu , A , Rothe , H M , Hoefele , J , Zacchia , M , Martic , T N , Gupta , A , van Eerde , A , Gear , S , Landini , S , Palazzo , V , al-Rabadi , L , Claes , K , Corveleyn , A , Van Hoof , E , van Geel , M , Williams , M , Ashton , E , Belge , H , Ars , E , Bierzynska , A , Gangemi , C & Lipska-Ziętkiewicz , B S 2021 , ' Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome : refining the ACMG criteria ' , European Journal of Human Genetics , vol. 29 , no. 8 , pp. 1186-1197 . https://doi.org/10.1038/s41431-021-00858-1.  , 2021
 
?
13

Consensus statement on standards and guidelines for the mol..:

Savige, Judy ; Storey, Helen ; Watson, Elizabeth...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-021-00858-1.  , 2021
 
?
15

Consensus statement on standards and guidelines for the mol..:

Savige, Judy ; Storey, Helen ; Watson, Elizabeth...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-021-00858-1.  , 2021
 
1-15