E-LIB Suche - Ergebnisse für: Boonsawat, Paranchai

1

Missense variants in ANO4 cause sporadic encephalopathic or..:

Yang, Fang ; Begemann, Anais ; Reichhart, Nadine...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1184-1205 , 2024

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

2

Assessing clinical utility of preconception expanded carrie..:

Boonsawat, Paranchai ; Horn, Anselm H. C. ; Steindl, Katharina...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

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

3

Prevalence of genetic susceptibility for breast and ovarian..:

Kraemer, Dennis ; Azzarello-Burri, Silvia ; Steindl, Katharina...
Swiss Medical Weekly. , 2019

Link: https://doi.org/10.4414/..

4

Elucidation of the phenotypic spectrum and genetic landscap..:

Boonsawat, Paranchai ; Joset, Pascal ; Steindl, Katharina...
Genetics in Medicine. 21 (2019) 9 - p. 2043-2058 , 2019

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

5

Clinical and experimental evidence suggest a link between K..:

Asadollahi, Reza ; Strauss, Justin E ; Zenker, Martin...
European Journal of Human Genetics. 26 (2018) 2 - p. 197-209 , 2018

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

6

Pathogenic SCN2A variants cause early-stage dysfunction in ..:

Asadollahi, Reza ; Delvendahl, Igor ; Muff, Rebecca...
info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddad048. , 2023

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

7

Pathogenic SCN2A variants cause early-stage dysfunction in ..:

Asadollahi, Reza ; Delvendahl, Igor ; Muff, Rebecca...
http://gala.gre.ac.uk/id/eprint/41738/13/41738-ASADOLLAHI-Pathogenic-SCN2A-variants-cause-early-stage-dysfunction-in-patient-derived-neurons_%28OA%29_2023.pdf. , 2023

Link: http://gala.gre.ac.uk/id..

8

Assessing clinical utility of preconception expanded carrie..:

Boonsawat, Paranchai ; Horn, Anselm H. C ; Steindl, Katharina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9338263/. , 2022

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

9

Disruption of RFX family transcription factors causes autis..:

Harris, Holly K ; Nakayama, Tojo ; Lai, Jenny...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9472083/. , 2021

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

10

Disruption of RFX family transcription factors causes autis..:

Harris, Holly K ; Nakayama, Tojo ; Lai, Jenny...
https://research.rug.nl/en/publications/0cec700f-320f-489c-b994-f6f3010f048b. , 2021

Link: https://hdl.handle.net/1..

11

Elucidation of the phenotypic spectrum and genetic landscap..:

Boonsawat, Paranchai ; Joset, Pascal ; Steindl, Katharina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752480/. , 2019

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

12

Elucidation of the phenotypic spectrum and genetic landscap..:

Boonsawat, Paranchai ; Joset, Pascal ; Steindl, Katharina...
http://gala.gre.ac.uk/id/eprint/36705/1/36705_ASADOLLAHI_Elucidation_of_the_phenotypic_spectrum.pdf. , 2019

Link: http://gala.gre.ac.uk/id..

13

Clinical and experimental evidence suggest a link between K..:

Asadollahi, Reza ; Strauss, Justin E ; Zenker, Martin...
http://gala.gre.ac.uk/id/eprint/36709/2/36709_ASADOLLAHI_Clinical_and_experimental_evidence.pdf. , 2018

Link: http://gala.gre.ac.uk/id..

14

Clinical and experimental evidence suggest a link between K..:

Asadollahi, Reza ; Strauss, Justin E ; Zenker, Martin...
https://mediatum.ub.tum.de/1534457. , 2018

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

15

Clinical and experimental evidence suggest a link between K..:

Asadollahi, Reza ; Strauss, Justin E ; Zenker, Martin...
https://mediatum.ub.tum.de/1535605. , 2018

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