E-LIB Suche - Ergebnisse für: Royer‐Bertrand, Beryl

1

Developmental disorder and spastic paraparesis in two siste..:

Royer‐Bertrand, Beryl ; Lebon, Sébastien ; Craig, Ailsa...
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1658-1663 , 2023

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

2

CNOT2 haploinsufficiency in a 40‐year‐old man with intellec..:

Royer‐Bertrand, Beryl ; Cisarova, Katarina ; Niel Bütschi, Florence...
American Journal of Medical Genetics Part A. 185 (2021) 8 - p. 2602-2606 , 2021

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

3

Peripheral neuropathy and cognitive impairment associated w..:

Royer‐Bertrand, Béryl ; Tsouni, Pinelopi ; Mullen, Patrick...
Annals of Clinical and Translational Neurology. 6 (2019) 6 - p. 1072-1080 , 2019

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

4

Brief Report: Peripheral Osteolysis in Adults Linked to ASA..:

Bonafé, Luisa ; Kariminejad, Ariana ; Li, Jia...
Arthritis & Rheumatology. 68 (2016) 9 - p. 2323-2327 , 2016

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

5

NBAS mutations cause a multisystem disorder involving bone,..:

Segarra, Nuria Garcia ; Ballhausen, Diana ; Crawford, Heather...
American Journal of Medical Genetics Part A. 167 (2015) 12 - p. 2902-2912 , 2015

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

6

An atypical form of 60S ribosomal subunit in Diamond-Blackf..:

Fellmann, Florence ; Saunders, Carol ; O'Donohue, Marie-Françoise...
JCI Insight. , 2024

Link: https://doi.org/10.1172/..

7

Analysis of missense variants in the human genome reveals w..:

Quinodoz, Mathieu ; Peter, Virginie G. ; Cisarova, Katarina...
The American Journal of Human Genetics. 109 (2022) 3 - p. 457-470 , 2022

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

8

Non-coding deletions identify Maenli lncRNA as a limb-speci..:

Allou, Lila ; Balzano, Sara ; Magg, Andreas...
Nature. , 2021

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

9

CNV Detection from Exome Sequencing Data in Routine Diagnos..:

Royer-Bertrand, Beryl ; Cisarova, Katarina ; Niel-Butschi, Florence...
Genes. 12 (2021) 9 - p. 1427 , 2021

Link: https://doi.org/10.3390/..

10

De novo variants in CACNA1E found in patients with intellec..:

Royer-Bertrand, Beryl ; Jequier Gygax, Marine ; Cisarova, Katarina...
Molecular Autism. 12 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

11

Childhood neurodegeneration associated with a specific UBTF..:

Bastos, Filipa ; Quinodoz, Mathieu ; Addor, Marie-Claude...
BMC Neurology. 20 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

12

Genomic and transcriptomic landscape of conjunctival melano..:

Cisarova, Katarina ; Folcher, Marc ; El Zaoui, Ikram...
PLOS Genetics. 16 (2020) 12 - p. e1009201 , 2020

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

13

Lamin B receptor-related disorder is associated with a spec..:

Thompson, Eliza ; Abdalla, Ebtesam ; Superti-Furga, Andrea...
Bone. 120 (2019) - p. 354-363 , 2019

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

14

Erratum: Corrigendum: NANS-mediated synthesis of sialic aci..:

van Karnebeek, Clara D M ; Bonafé, Luisa ; Wen, Xiao-Yan...
Nature Genetics. 49 (2017) 6 - p. 969-969 , 2017

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

15

EXTL3 mutations cause skeletal dysplasia, immune deficiency..:

Volpi, Stefano ; Yamazaki, Yasuhiro ; Brauer, Patrick M....
Journal of Experimental Medicine. 214 (2017) 3 - p. 623-637 , 2017

Link: https://doi.org/10.1084/..