Suchergebnisse - "Bedoni, Nicola"

PubPharm (16)

1

Mosaic RASopathies concept : different skin lesions, same systemic manifestations?

enthalten in: Journal of medical genetics | 2024

von Morren, M. | Fodstad, H. | Brems, H. | +7

2

The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation

enthalten in: European journal of medical genetics | 2022

von Redin, C. | Pavlidou, D. | Bhuiyan, Z. | +11

3

Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies

enthalten in: Scientific reports | 2021

von Rehman, A. | Sepahi, N. | Bedoni, N. | +13

4

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

enthalten in: Nature communications | 2021

von Quinodoz, M. | Peter, V. | Bedoni, N. | +13

5

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

enthalten in: Scientific reports | 2020

von Salmaninejad, A. | Bedoni, N. | Ravesh, Z. | +5

6

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs

enthalten in: Human molecular genetics | 2020

von Bedoni, N. | Quinodoz, M. | Pinelli, M. | +17

7

Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice

enthalten in: PLoS genetics | 2019

von Moye, A. | Bedoni, N. | Cunningham, J. | +14

8

Conjunctival Melanoma Targeted Therapy : MAPK and PI3K/mTOR Pathways Inhibition

enthalten in: Investigative ophthalmology & visual science | 2019

von El Zaoui, I. | Bucher, M. | Rimoldi, D. | +11

9

Gene discovery in inherited retinal diseases using whole genome sequencing and autozygome based analysis

Erschienen: Dissertation, Université de Lausanne, Faculté de biologie et médecine, 2019

von Bedoni, N.

10

A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2018

von Khateb, S. | Kowalewski, B. | Bedoni, N. | +10