E-LIB Suche - Ergebnisse für: Elfferich, Peter

1

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal..:

West, Hannah D. ; Nellist, Mark ; Brouwer, Rutger W. W....
Human Mutation. 2023 (2023) - p. 1-18 , 2023

Link: https://doi.org/10.1155/..

2

Functional Assays Combined with Pre-mRNA-Splicing Analysis ..:

Douben, Hannie ; Hoogeveen-Westerveld, Marianne ; Nellist, Mark...
Human Mutation. 2023 (2023) - p. 1-14 , 2023

Link: https://doi.org/10.1155/..

3

High‐yield identification of pathogenicNF1variants by skin ..:

Douben, Hannie C. W. ; Nellist, Mark ; van Unen, Leontine...
Human Mutation. 43 (2022) 12 - p. 2130-2140 , 2022

Link: https://doi.org/10.1002/..

4

Functional and structural analyses of novel Smith-Kingsmore..:

Besterman, Aaron ; Althoff, Thorsten ; Elfferich, Peter...
Molecular Genetics and Metabolism. 132 (2021) - p. S107 , 2021

Link: https://doi.org/10.1016/..

5

Functional and structural analyses of novel Smith-Kingsmore..:

Besterman, Aaron D. ; Althoff, Thorsten ; Elfferich, Peter...
PLOS Genetics. 17 (2021) 7 - p. e1009651 , 2021

Link: https://doi.org/10.1371/..

6

Heterogeneous clinical phenotypes and cerebral malformation..:

Vandervore, Laura V ; Schot, Rachel ; Kasteleijn, Esmee...
Brain. 142 (2019) 4 - p. 867-884 , 2019

Link: https://doi.org/10.1093/..

7

Comparison of the functional and structural characteristics..:

Dufner Almeida, Luiz G. ; Nanhoe, Santoesha ; Zonta, Andrea...
Human Mutation. 41 (2019) 4 - p. 759-773 , 2019

Link: https://doi.org/10.1002/..

8

Complete APTX deletion in a patient with ataxia with oculom..:

van Minkelen, Rick ; Guitart, Miriam ; Escofet, Conxita...
BMC Medical Genetics. 16 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

9

Breakpoint mapping of 13 large parkin deletions/duplication..:

Elfferich, Peter ; Verleun-Mooijman, Marja C. ; Maat-Kievit, J. Anneke...
neurogenetics. 12 (2011) 4 - p. 263-271 , 2011

Link: https://doi.org/10.1007/..

10

Identification of a large rearrangement in CYLD as a cause ..:

van den Ouweland, Ans M. W. ; Elfferich, Peter ; Lamping, Roy...
Familial Cancer. 10 (2010) 1 - p. 127-132 , 2010

Link: https://doi.org/10.1007/..

11

High level expression and secretion of truncated forms of h..:

van Kooij, Adriaan ; Middel, Jeena ; Jakab, Ferenc...
Protein Expression and Purification. 25 (2002) 3 - p. 400-408 , 2002

Link: https://doi.org/10.1016/..

12

Rapidc-mycmRNA degradation does not require (A + U)-rich se..:

Laird-Offringa, Ite A. ; Elfferich, Peter ; Eb, A.J.van der
Nucleic Acids Research. 19 (1991) 9 - p. 2387-2394 , 1991

Link: https://doi.org/10.1093/..

13

Web-accessible application for identifying pathogenic trans..:

Dekker, Jordy ; Schot, Rachel ; Bongaerts, Michiel...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9943747/. , 2023

Link: http://www.ncbi.nlm.nih...

14

High‐yield identification of pathogenic NF1 variants by ski..:

Douben, Hannie C. W ; Nellist, Mark ; van Unen, Leontine...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099955/. , 2022

Link: http://www.ncbi.nlm.nih...

15

Functional and structural analyses of novel Smith-Kingsmore..:

Besterman, Aaron D ; Althoff, Thorsten ; Elfferich, Peter...
Besterman , A D , Althoff , T , Elfferich , P , Gutierrez-Mejia , I , Sadik , J , Bernstein , J A , Van Ierland , Y , Kattentidt-Mouravieva , A A , Nellist , M , Abramson , J & Martinez-Agosto , J A 2021 , ' Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity ' , PLoS Genetics , vol. 17 , no. 7 , e1009651 . https://doi.org/10.1371/journal.pgen.1009651. , 2021

Link: https://pure.eur.nl/en/p..