Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Jennifer, Silhavy
89  Ergebnisse:
Personensuche X
?
1

Loss of Protocadherin‐12Leads to Diencephalic‐Mesencephalic..:

Guemez‐Gamboa, Alicia ; Çağlayan, Ahmet Okay ; Stanley, Valentina...
Annals of Neurology.  84 (2018)  5 - p. 638-647 , 2018
Link: https://doi.org/10.1002/..
 
?
2

Biallelic loss of human CTNNA2, encoding αN-catenin, leads ..:

Schaffer, Ashleigh E. ; Breuss, Martin W. ; Caglayan, Ahmet Okay...
Nature Genetics.  50 (2018)  8 - p. 1093-1101 , 2018
Link: https://doi.org/10.1038/..
 
?
3

Biallelic mutations in the 3′ exonuclease TOE1 cause pontoc..:

Lardelli, Rea M ; Schaffer, Ashleigh E ; Eggens, Veerle R C...
Nature Genetics.  49 (2017)  3 - p. 457-464 , 2017
Link: https://doi.org/10.1038/..
 
?
4

Pyruvate dehydrogenase complex-E2 deficiency causes paroxys..:

Friedman, Jennifer ; Feigenbaum, Annette ; Chuang, Nathaniel..
Neurology.  89 (2017)  22 - p. 2297-2298 , 2017
Link: https://doi.org/10.1212/..
 
?
5

Identification of a homozygous nonsense mutation in KIAA055..:

Roosing, Susanne ; Rosti, Rasim O. ; Rosti, Basak...
Human Genetics.  135 (2016)  8 - p. 919-921 , 2016
Link: https://doi.org/10.1007/..
 
?
6

Functional genome-wide siRNA screen identifies KIAA0586 as ..:

Roosing, Susanne ; Hofree, Matan ; Kim, Sehyun...
eLife.  4 (2015)  - p. , 2015
Link: https://doi.org/10.7554/..
 
?
7

Biallelic mutations in SNX14 cause a syndromic form of cere..:

Akizu, Naiara ; Cantagrel, Vincent ; Zaki, Maha S...
Nature Genetics.  47 (2015)  5 - p. 528-534 , 2015
Link: https://doi.org/10.1038/..
 
?
8

Exome Sequencing Links Corticospinal Motor Neuron Disease t..:

Novarino, Gaia ; Fenstermaker, Ali G. ; Zaki, Maha S....
Science.  343 (2014)  6170 - p. 506-511 , 2014
Link: https://doi.org/10.1126/..
 
?
9

CLP1 Founder Mutation Links tRNA Splicing and Maturation to..:

Schaffer, Ashleigh E. ; Eggens, Veerle R.C. ; Caglayan, Ahmet Okay...
Cell.  157 (2014)  3 - p. 651-663 , 2014
Link: https://doi.org/10.1016/..
 
?
10

Exome Sequencing Links Corticospinal Motor Neuron Disease t..:

Novarino, Gaia ; Fenstermaker, Ali G. ; Zaki, Maha S....
Science.  343 (2014)  6170 - p. 506-511 , 2014
Link: http://www.jstor.org/sta..
 
?
11

AMPD2 Regulates GTP Synthesis and Is Mutated in a Potential..:

Akizu, Naiara ; Cantagrel, Vincent ; Schroth, Jana...
Cell.  154 (2013)  3 - p. 505-517 , 2013
Link: https://doi.org/10.1016/..
 
?
12

Mild paroxysmal kinesigenic dyskinesia caused byPRRT2missen..:

Friedman, Jennifer ; Olvera, Jesus ; Silhavy, Jennifer L...
Neurology.  79 (2012)  9 - p. 946-948 , 2012
Link: https://doi.org/10.1212/..
 
?
13

A missense founder mutation in VLDLR is associated with Dys..:

Ali, Bassam R ; Silhavy, Jennifer L ; Gleeson, Matthew J..
BMC Medical Genetics.  13 (2012)  1 - p. , 2012
Link: https://doi.org/10.1186/..
 
?
14

Mutations in BCKD-kinase Lead to a Potentially Treatable Fo..:

Novarino, Gaia ; El-Fishawy, Paul ; Kayserili, Hulya...
Science.  338 (2012)  6105 - p. 394-397 , 2012
Link: https://www.jstor.org/st..
 
?
15

Evolutionarily Assembled cis-Regulatory Module at a Human C..:

Lee, Jeong Ho ; Silhavy, Jennifer L. ; Lee, Ji Eun...
Science.  335 (2012)  6071 - p. 966-969 , 2012
Link: https://doi.org/10.1126/..
 
1-15