E-LIB Suche - Ergebnisse für: Hung, Christina Y.

1

A novel FAM20C mutation causes a rare form of neonatal leth..:

Hung, Christina Y. ; Rodriguez, Mario ; Roberts, Abra...
American Journal of Medical Genetics Part A. 179 (2019) 9 - p. 1866-1871 , 2019

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

2

Spectrum of neurodevelopmental disease associated with the ..:

Kelly, McKenna ; Park, Meredith ; Mihalek, Ivana...
Epilepsia. 60 (2019) 3 - p. 406-418 , 2019

Link: https://doi.org/10.1111/..

3

De novo loss-of-function KCNMA1 variants are associated wit..:

Liang, Lina ; Li, Xia ; Moutton, Sébastien...
Human Molecular Genetics. 28 (2019) 17 - p. 2937-2951 , 2019

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

4

A defect in the inner kinetochore protein CENPT causes a ne..:

Hung, Christina Y. ; Volkmar, Barbara ; Baker, James D....
PLOS ONE. 12 (2017) 12 - p. e0189324 , 2017

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

5

Mutations in SLC39A14 disrupt manganese homeostasis and cau..:

Tuschl, Karin ; Meyer, Esther ; Valdivia, Leonardo E....
Nature Communications. 7 (2016) 1 - p. , 2016

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

6

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Sp..:

Johnson, Britt ; Mascher, Hermann ; Mascher, Daniel...
Annals of Laboratory Medicine. 33 (2013) 4 - p. 274-278 , 2013

Link: https://doi.org/10.3343/..

7

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorde:

Carapito, Raphael ; Ivanova, Ekaterina L ; Morlon, Aurore...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042478/. , 2020

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

8

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorde:

Carapito, Raphael ; Ivanova, Ekaterina L ; Morlon, Aurore...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.12.007. , 2019

Link: https://hal.science/hal-..

9

Spectrum of neurodevelopmental disease associated with the ..:

Kelly, McKenna ; Park, Meredith ; Mihalek, Ivana...
qt5mv7d47m. , 2019

Link: https://escholarship.org..

10

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorde:

Carapito, Raphael ; Ivanova, Ekaterina L ; Morlon, Aurore...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.12.007. , 2019

Link: https://hal.science/hal-..

11

Spectrum of neurodevelopmental disease associated with the ..:

Kelly, McKenna ; Park, Meredith ; Mihalek, Ivana...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452443/. , 2019

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

12

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorde:

Carapito, Raphael ; Ivanova, Ekaterina L ; Morlon, Aurore...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.12.007. , 2019

Link: https://hal.science/hal-..

13

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorde:

Carapito, Raphael ; Ivanova, Ekaterina L ; Morlon, Aurore...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.12.007. , 2019

Link: https://hal.archives-ouv..

14

Spectrum of neurodevelopmental disease associated with the ..:

Kelly, McKenna ; Park, Meredith ; Mihalek, Ivana...
Sveučilište u Rijeci. Medicinski fakultet. Katedra za molekularnu medicinu i biotehnologiju.. , 2019

Link: https://www.unirepositor..

15

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorde:

Carapito, Raphael ; Ivanova, Ekaterina L ; Morlon, Aurore...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.12.007. , 2019

Link: https://hal.science/hal-..