E-LIB Suche - Ergebnisse für: St‐Onge, Judith

1

Biallelic SCN10A mutations in neuromuscular disease and epi..:

Kambouris, Marios ; Thevenon, Julien ; Soldatos, Ariane...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5221474/. , 2016

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

2

mTOR Pathway Somatic Pathogenic Variants in Focal Malformat..:

Krochmalnek, Eric ; Accogli, Andrea ; St-Onge, Judith...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602370/. , 2023

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

3

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic..:

Accogli, Andrea ; Calabretta, Sara ; St-Onge, Judith...
qt113843xk. , 2019

Link: https://escholarship.org..

4

Lysosomal Signaling Licenses Embryonic Stem Cell Differenti..:

Villegas, Florian ; Lehalle, Daphne ; Mayer, Daniela...
https://research.rug.nl/en/publications/50ba912c-f7b0-44f6-a0d4-b66273b6252f. , 2019

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

5

Postzygotic inactivating mutations of RHOA cause a mosaic n..:

Vabres, Pierre ; Sorlin, Arthur ; Kholmanskikh, Stanislav S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858542/. , 2019

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

6

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic..:

Accogli, Andrea ; Calabretta, Sara ; St-Onge, Judith...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817525/. , 2019

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

7

15 years of research on Oral-Facial-Digital syndromes: from..:

Bruel, Ange-Line ; Franco, Brunella ; Duffourd, Yannis...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5557276/. , 2017

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

8

Fifteen years of research on oral–facial–digital syndromes:..:

Bruel, Ange-Line ; Franco, Brunella ; Duffourd, Yannis...
qt6vw2q34w. , 2017

Link: https://escholarship.org..

9

Clinical reappraisal of SHORT syndrome with PIK3R1 mutation..:

Avila, Magali ; Dyment, David A ; Sagen, Jørn V...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.12688. , 2016

Link: https://univ-rennes.hal...

10

Clinical reappraisal of SHORT syndrome with PIK3R1 mutation..:

Avila, Magali ; Dyment, David A ; Sagen, Jørn V...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.12688. , 2016

Link: https://hal-univ-rennes1..

11

A de novo microdeletion of SEMA5A in a boy with autism spec..:

Mosca-Boidron, Anne-Laure ; Gueneau, Lucie ; Huguet, Guillaume...
info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2015.211. , 2016

Link: https://pasteur.hal.scie..

12

Clinical reappraisal of SHORT syndrome with PIK3R1 mutation..:

Avila, Magali ; Dyment, David A ; Sagen, Jørn V...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.12688. , 2016

Link: https://univ-rennes.hal...

13

A de novo microdeletion of SEMA5A in a boy with autism spec..:

Mosca-Boidron, Anne-Laure ; Gueneau, Lucie ; Huguet, Guillaume...
info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2015.211. , 2016

Link: https://pasteur.hal.scie..

14

A de novo microdeletion of SEMA5A in a boy with autism spec..:

Gueneau, Lucie ; Huguet, Guillaume ; Goldenberg, Alice...
European Journal of Human Genetics 6 (24), 838-843. (2016). , 2016

Link: http://prodinra.inra.fr/..

15

Clinical reappraisal of SHORT syndrome with PIK3R1 mutation..:

Avila, Magali ; Dyment, David A ; Sagen, Jørn V...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.12688. , 2016

Link: https://univ-rennes.hal...