E-LIB Suche - Ergebnisse für: Bedoni, Nicola

1

The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC..:

Redin, Claire ; Pavlidou, Despina Christina ; Bhuiyan, Zahurul...
European Journal of Medical Genetics. 65 (2022) 12 - p. 104627 , 2022

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

2

AutoMap is a high performance homozygosity mapping tool usi..:

Quinodoz, Mathieu ; Peter, Virginie G. ; Bedoni, Nicola...
Nature Communications. 12 (2021) 1 - p. , 2021

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

3

Whole exome sequencing in 17 consanguineous Iranian pedigre..:

Rehman, Atta Ur ; Sepahi, Neda ; Bedoni, Nicola...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

4

An Alu-mediated duplication in NMNAT1, involved in NAD bios..:

Bedoni, Nicola ; Quinodoz, Mathieu ; Pinelli, Michele...
Human Molecular Genetics. 29 (2020) 13 - p. 2250-2260 , 2020

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

5

Whole exome sequencing and homozygosity mapping reveals gen..:

Salmaninejad, Arash ; Bedoni, Nicola ; Ravesh, Zeinab...
Scientific Reports. 10 (2020) 1 - p. , 2020

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

6

Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR ..:

El Zaoui, Ikram ; Bucher, Maya ; Rimoldi, Donata...
Investigative Opthalmology & Visual Science. 60 (2019) 7 - p. 2764 , 2019

Link: https://doi.org/10.1167/..

7

Mutations in ARL2BP, a protein required for ciliary microtu..:

Moye, Abigail R. ; Bedoni, Nicola ; Cunningham, Jessica G....
PLOS Genetics. 15 (2019) 8 - p. e1008315 , 2019

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

8

A homozygous founder missense variant in arylsulfatase G ab..:

Khateb, Samer ; Kowalewski, Björn ; Bedoni, Nicola...
Genetics in Medicine. 20 (2018) 9 - p. 1004-1012 , 2018

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

9

Mutations in the polyglutamylase geneTTLL5, expressed in ph..:

Bedoni, Nicola ; Haer-Wigman, Lonneke ; Vaclavik, Veronika...
Human Molecular Genetics. , 2016

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

10

Analysis of the genetic basis of periodic fever with aphtho..:

Gioia, Silvio Alessandro Di ; Bedoni, Nicola ; von Scheven-Gête, Annette...
Scientific Reports. 5 (2015) 1 - p. , 2015

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

11

acr-23 Encodes a Monepantel-Sensitive Channel in Caenorhabd..:

Rufener, Lucien ; Bedoni, Nicola ; Baur, Roland...
PLoS Pathogens. 9 (2013) 8 - p. e1003524 , 2013

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

12

AutoMap is a high performance homozygosity mapping tool usi..:

Quinodoz, Mathieu ; Peter, Virginie G ; Bedoni, Nicola...
Nature Communications. , 2021

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

13

Whole exome sequencing in 17 consanguineous Iranian pedigre..:

Rehman, Atta Ur ; Sepahi, Neda ; Bedoni, Nicola...
Scientific Reports. , 2021

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

14

AutoMap is a high performance homozygosity mapping tool usi..:

Quinodoz, Mathieu ; Peter, Virginie G ; Bedoni, Nicola...
https://www.nature.com/ncomms/. , 2021

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

15

Whole exome sequencing and homozygosity mapping reveals gen..:

Salmaninejad, Arash ; Bedoni, Nicola ; Ravesh, Zeinab...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7655865/. , 2020

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