E-LIB Suche - Ergebnisse für: Appelhof, Bart

1

Pontocerebellar hypoplasia due to bi-allelic variants in MI..:

Appelhof, Bart ; Wagner, Matias ; Hoefele, Julia...
European Journal of Human Genetics. 29 (2020) 3 - p. 411-421 , 2020

2

A de novo missense mutation in the inositol 1,4,5‐triphosph..:

van Dijk, Tessa ; Barth, Peter ; Reneman, Liesbeth...
American Journal of Medical Genetics Part A. 173 (2016) 1 - p. 207-212 , 2016

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

3

Whole Exome Sequencing Reveals Compound Heterozygosity for ..:

Jacobsen, Jessie C. ; Glamuzina, Emma ; Taylor, Juliet...
Case Reports in Genetics. 2015 (2015) - p. 1-4 , 2015

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

4

Pontocerebellar hypoplasia due to bi-allelic variants in MI..:

Appelhof, Bart ; Wagner, Matias ; Hoefele, Julia...
https://mediatum.ub.tum.de/1584974. , 2020

Link: https://mediatum.ub.tum...

5

Pontocerebellar hypoplasia due to bi-allelic variants in MI..:

Appelhof, Bart ; Wagner, Matias ; Hoefele, Julia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7940488/. , 2020

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

6

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative ..:

Marin-Valencia, Isaac ; Gerondopoulos, Andreas ; Zaki, Maha S...
qt1hf0v9cn. , 2017

Link: https://escholarship.org..

7

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative ..:

Marin-Valencia, Isaac ; Gerondopoulos, Andreas ; Zaki, Maha S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590949/. , 2017

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

8

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative ..:

Wirth, Sara ; Gregor, Anne ; Musaev, Damir...
769b1fb2-a591-49cc-8797-07397f3c62ac. , 2017

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

9

EDITOR'S PICK: CLASSIFICATION OF PONTOCEREBELLAR HYPOPLASIA..:

Bart Appelhof ; Peter G. Barth ; Frank Baas
https://www.emjreviews.com/neurology/article/editors-pick-classification-of-pontocerebellar-hypoplasia-where-does-it-end/. , 2019

Link: https://doaj.org/article..

10

Whole Exome Sequencing Reveals Compound Heterozygosity for ..:

Jessie C. Jacobsen ; Emma Glamuzina ; Juliet Taylor...
http://dx.doi.org/10.1155/2015/454526. , 2015

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