E-LIB Suche - Ergebnisse für: Duarte, ST

1

Analysis Management System is Applied By Wartsila Group in ..:

Duarte da Costa Sarmento , Prof. Dr. Tjokorda Gde Tirta Nindhia ST, MT , Dr. Ir. I Gusti Ngurah Nitya Santhiarsa MT , Dewa Nhakan Ketut Putra Negara, ST, M.Sc
https://journalppw.com/index.php/jpsp/article/view/9317/6051. , 2022

Link: https://journalppw.com/i..

2

Structural analysis of pathogenic missense mutations in GAB..:

Sanchis-Juan, A ; Hasenahuer, MA ; Baker, JA...
https://discovery.ucl.ac.uk/id/eprint/10097313/1/Kurian_Structural%20analysis%20of%20pathogenic%20missense%20mutations%20in%20GABRA2%20and%20identification%20of%20a%20novel%20de%20novo%20variant%20in%20the%20desensitization%20gate_AOP.pdf. , 2020

Link: https://discovery.ucl.ac..

3

Structural Analysis of Pathogenic Missense Mutations in GAB..:

Sanchis-Juan, A ; Hasenahuer, MA ; Baker, JA...
Mol Genet Genomic Med . 2020 Jul;8(7):e1106. , 2020

Link: http://hdl.handle.net/10..

4

Impairment of Adenosinergic System in Rett syndrome: Novel ..:

Miranda-Lourenço, C ; Duarte, ST ; Palminha, C...
Neurobiol Dis . 2020 Nov;145:105043. , 2020

Link: http://hdl.handle.net/10..

5

AP4S1 Splice-Site Mutation in a Case of Spastic Paraplegia ..:

Carmona, S ; Marecos, C ; Amorim, M...
Neurol Genet. 2018 Sep 19;4(5):e273. , 2018

Link: http://hdl.handle.net/10..

6

Loss of Hierarchical Imprinting Regulation at the Prader-Wi..:

Pólvora-Brandão, D ; Joaquim, M ; Godinho, I...
Hum Mol Genet. 2018; 27(23):3999-4011. , 2018

Link: http://hdl.handle.net/10..

7

De novo truncating mutations in WASF1 cause intellectual di..:

Ito, Y ; Carss, KJ ; Duarte, ST...
doi:10.1016/j.ajhg.2018.06.001. , 2018

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

8

De Novo Truncating Mutations in WASF1 Cause Intellectual Di..:

Ito, Y ; Carss, KJ ; Duarte, ST...
https://eprints.whiterose.ac.uk/136021/1/1-s2.0-S0002929718301940-main.pdf. , 2018

Link: https://eprints.whiteros..

9

De Novo Truncating Mutations in WASF1 Cause Intellectual Di..:

Ito, Y ; Carss, KJ ; Duarte, ST...
https://openaccess.sgul.ac.uk/id/eprint/111379/1/1-s2.0-S0002929718301940-main.pdf. , 2018

Link: https://openaccess.sgul...

10

De Novo Truncating Mutations in WASF1 Cause Intellectual Di..:

Ito, Y ; Carss, KJ ; Duarte, ST...
https://discovery.ucl.ac.uk/id/eprint/10051436/1/Gale%20VoR%201-s2.0-S0002929718301940-main.pdf. , 2018

Link: https://discovery.ucl.ac..

11

De Novo Truncating Mutations in WASF1 Cause Intellectual Di..:

Ito, Y ; Carss, KJ ; Duarte, ST...
Am J Hum Genet . 2018 Jul 5;103(1):144-153. , 2018

Link: http://hdl.handle.net/10..

12

De Novo truncating mutations in WASF1 cause intellectual di..:

Ito, Y ; Carss, KJ ; Duarte, ST...
American Journal of Human Genetics. , 2018

Link: http://hdl.handle.net/10..

13

AP4S1 splice-site mutation in a case of spastic paraplegia ..:

Carmona, S ; Marecos, C ; Amorim, M...
https://discovery.ucl.ac.uk/id/eprint/10058130/1/e273.full.pdf. , 2018

Link: https://discovery.ucl.ac..

14

Atypical phenotype in two patients with LAMA2 mutations:

Marques, J ; Duarte, ST ; Costa, S...
Neuromuscul Disord. 2014. pii: S0960-8966(14)00007-8. , 2014

Link: http://hdl.handle.net/10..

15

Undetectable Levels of CSF Amyloid-β Peptide in a Patient w..:

Ortez, C ; Villar, C ; Fons, C...
J Alzheimers Dis. 2011;27(2):253-7. , 2011

Link: http://hdl.handle.net/10..