E-LIB Suche - Ergebnisse für: Menassa, Rita

1

DEFINING THE LANDSCAPE OF TIA1 AND SQSTM1 DIGENIC MYOPATHY:

Panos-Basterra, Paula ; Theuriet, Julian ; Nadaj-Pakleza, Aleksandra...
Neuromuscular Disorders. , 2024

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

2

The new missense G376V-TDP-43 variant induces late-onset di..:

Zibold, Julia ; Lessard, Lola E R ; Picard, Flavien...
Brain. 147 (2023) 5 - p. 1768-1783 , 2023

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

3

Muscular phenotype description of abnormal THOC2 splicing:

Dubucs, Charlotte ; Rendu, John ; Michel-Calemard, Laurence...
Neuromuscular Disorders. 33 (2023) 12 - p. 978-982 , 2023

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

4

Novel Intronic Mutation in VMA21 Causing Severe Phenotype o..:

Pegat, Antoine ; Streichenberger, Nathalie ; Lacoste, Nicolas...
Genes. 13 (2022) 12 - p. 2245 , 2022

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

5

Prenatal dexamethasone treatment for classic 21-hydroxylase..:

Nowotny, Hanna ; Neumann, Uta ; Tardy-Guidollet, Véronique...
European Journal of Endocrinology. 186 (2022) 5 - p. K17-K24 , 2022

Link: https://doi.org/10.1530/..

6

Aberrant Splicing Is the Pathogenicity Mechanism of the p.G..:

Goursaud, Claire ; Mallet, Delphine ; Janin, Alexandre...
Frontiers in Endocrinology. 9 (2018) - p. , 2018

Link: https://doi.org/10.3389/..

7

News about the genetics of congenital primary adrenal insuf..:

Roucher-Boulez, Florence ; Mallet-Motak, Delphine ; Tardy-Guidollet, Véronique...
Annales d'Endocrinologie. 79 (2018) 3 - p. 174-181 , 2018

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

8

A splicing mutation in the DMD gene detected by next-genera..:

Roucher Boulez, Florence ; Menassa, Rita ; Streichenberger, Nathalie...
Clinica Chimica Acta. 448 (2015) - p. 146-149 , 2015

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

9

New Management Strategy of Pregnancies at Risk of Congenita..:

Tardy-Guidollet, Véronique ; Menassa, Rita ; Costa, Jean-Marc...
The Journal of Clinical Endocrinology & Metabolism. 99 (2014) 4 - p. 1180-1188 , 2014

Link: https://doi.org/10.1210/..

10

Mutational spectrum of cystic fibrosis in the Lebanese popu..:

Farra, Chantal ; Menassa, Rita ; Awwad, Johnny...
Journal of Cystic Fibrosis. 9 (2010) 6 - p. 406-410 , 2010

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

11

Immune-Mediated Rippling Muscle Disease Associated With Thy..:

Svahn, Juliette ; Coudert, Laurent ; Streichenberger, Nathalie...
info:eu-repo/semantics/altIdentifier/doi/10.1212/NXI.0000000000200068. , 2023

Link: https://cnrs.hal.science..

12

Immune-Mediated Rippling Muscle Disease Associated With Thy..:

Svahn, Juliette ; Coudert, Laurent ; Streichenberger, Nathalie...
info:eu-repo/semantics/altIdentifier/doi/10.1212/NXI.0000000000200068. , 2023

Link: https://cnrs.hal.science..

13

Immune-Mediated Rippling Muscle Disease Associated With Thy..:

Svahn, Juliette ; Coudert, Laurent ; Streichenberger, Nathalie...
info:eu-repo/semantics/altIdentifier/doi/10.1212/NXI.0000000000200068. , 2023

Link: https://cnrs.hal.science..

14

Prenatal dexamethasone treatment for classic 21-hydroxylase..:

Nowotny, Hanna ; Neumann, Uta ; Tardy-Guidollet, Veronique...
urn:issn:0804-4643. , 2022

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

15

Prenatal dexamethasone treatment for classic 21-hydroxylase..:

Nowotny, Hanna ; Neumann, Uta ; Tardy-Guidollet, Veronique...
https://pure.au.dk/portal/da/publications/prenatal-dexamethasone-treatment-for-classic-21hydroxylase-deficiency-in-europe(4c6df6d3-16d4-4664-b6d3-e96a64e61d81).html. , 2022

Link: https://pure.au.dk/porta..