E-LIB Suche - Ergebnisse für: Unen, Leontine

1

Mild TSC phenotype and non-penetrance associated with a fra..:

Farach, Laura S. ; Northrup, Hope ; Nellist, Mark...
Gene. 877 (2023) - p. 147566 , 2023

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

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

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...

4

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/..

5

eP120: Predicted frameshift variant in TSC2 associated with..:

Farach, Laura ; Au, Kit-Sing ; Nellist, Mark...
Genetics in Medicine. 24 (2022) 3 - p. S75-S76 , 2022

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

6

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...

7

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/..

8

Heterogeneous clinical phenotypes and cerebral malformation..:

Vandervore, Laura V ; Schot, Rachel ; Kasteleijn, Esmee...
https://research.rug.nl/en/publications/00b35166-d08e-4bbb-a3f7-1a54850d4541. , 2019

Link: https://hdl.handle.net/1..

9

Heterogeneous clinical phenotypes and cerebral malformation..:

Vandervore, Laura V ; Schot, Rachel ; Kasteleijn, Esmee...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439326/. , 2019

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

10

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting..:

Verhagen, Judith M.A ; van den Born, Myrthe ; van der Linde, Herma C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7205403/. , 2019

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

11

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting..:

Verhagen, Judith M. A ; van den Born, Myrthe ; van der Linde, Herma C...
https://research.rug.nl/en/publications/fd21abed-0fdd-4128-aeec-1d03ed3fb370. , 2019

Link: https://hdl.handle.net/1..

12

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

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

13

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

Kievit, Anneke ; Tessadori, Federico ; Douben, Hannie...
European Journal of Human Genetics. 26 (2018) 2 - p. 210-219 , 2018

Link: https://doi.org/10.1038/..

14

Mutated zinc finger protein of the cerebellum 1 leads to mi..:

Vandervore, Laura V. ; Schot, Rachel ; Hoogeboom, A. Jeannette M....
European Journal of Medical Genetics. 61 (2018) 12 - p. 783-789 , 2018

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

15

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

Kievit, Anneke ; Tessadori, Federico ; Douben, Hannie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838974/. , 2018

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