E-LIB Suche - Ergebnisse für: Jennifer, Silhavy

1

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

Susanne Roosing ; Matan Hofree ; Sehyun Kim...
https://elifesciences.org/articles/06602. , 2015

Link: https://doi.org/10.7554/..

2

author response functional genome wide sirna screen identif..:

Susanne Roosing ; Matan Hofree ; Sehyun Kim...
url:https://www.openaccessrepository.it/communities/itmirror. , 2015

Link: https://www.openaccessre..

3

Phenotypic spectrum and prevalence of INPP5E mutations in J..:

Lorena, Travaglini ; Francesco, Brancati ; Jennifer, Silhavy...
info:eu-repo/semantics/altIdentifier/pmid/23386033. , 2013

Link: http://hdl.handle.net/11..

4

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephali..:

Gleeson, Joseph G ; PER, HÜSEYİN ; Erson-Omay, Emine Z...
e8c070ed-4536-4375-b557-f03858dec5f9. , 2018

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

5

A homozygous founder mutation in TRAPPC6B associates with a..:

Marin Valencia, Isaac ; Novarino, Gaia ; Johansen, Anide...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2017-104627. , 2018

Link: https://research-explore..

6

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephali..:

Gumus, Hakan ; Gleeson, Joseph G ; Gunel, Murat...
e8c070ed-4536-4375-b557-f03858dec5f9. , 2018

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

7

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

Schaffer, Ashleigh E ; Breuss, Martin W ; Caglayan, Ahmet Okay...
qt9s51b96f. , 2018

Link: https://escholarship.org..

8

Biallelic loss of human CTNNA2, encoding alpha N-catenin, l..:

Sukhudyan, Biayna ; Miller, Ian ; Mansour, Lobna...
f028095c-14a8-4e94-affe-c7afb69af407. , 2018

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

9

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

Lardelli, Rea M ; Schaffer, Ashleigh E ; Eggens, Veerle R C...
boreal:185588. , 2017

Link: http://hdl.handle.net/20..

10

Biallelic mutations in the 3 ' exonuclease TOE1 cause ponto..:

Heckman, Laura Dean ; Rosti, Rasim Ozgur ; Dikoglu, Esra...
794afd61-8a73-4521-9a7c-0388d3347c22. , 2017

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

11

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

Lardelli, Rea M ; Schaffer, Ashleigh E ; Eggens, Veerle R C...
boreal:185588. , 2017

Link: http://hdl.handle.net/20..

12

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

Lardelli, Rea M ; Schaffer, Ashleigh E ; Eggens, Veerle RC...
qt0xp8399t. , 2017

Link: https://escholarship.org..

13

Biallelic Mutations in TMTC3, Encoding a Transmembrane and ..:

Jerber, Julie ; Zaki, Maha S ; Al-Aama, Jumana Y...
Jerber J., Zaki M. S. , Al-Aama J. Y. , Rosti R. O. , Ben-Omran T., Dikoglu E., Silhavy J. L. , Caglar C., Musaev D., Albrecht B., et al., -Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly-, AMERICAN JOURNAL OF HUMAN GENETICS, cilt.99, sa.5, ss.1181-1189, 2016. , 2016

Link: https://hdl.handle.net/2..

14

Biallelic Mutations in TMTC3, Encoding a Transmembrane and ..:

Jerber, Julie ; Gleeson, Joseph G ; Gunel, Murat...
a6d3ca0e-4301-4dac-a58e-0f487b4de4bf. , 2016

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

15

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

SILHAVY, Jennifer L ; AKIZU, Naiara ; CANTAGREL, Vincent...
71e72c41-0794-4a7c-a515-3db53391814e. , 2015

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