E-LIB Suche - Ergebnisse für: Escande-Beillard, N.

1

Neutrophil Gelatinase-Associated Lipocalin (NGAL), a new ea..:

Escande Orthilieb, M. ; Mordarska, M. ; Marsoubian, L...
Annales de Cardiologie et d'Angéiologie. 60 (2011) 5 - p. 307-308 , 2011

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

2

Mutations in Pycr1 cause progeroid changes in skin and bone..:

Reversade, B. ; Escande-Beillard, N. ; Dimopoulou, A....
Bone. 47 (2010) - p. S154-S155 , 2010

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

3

Neonatal lower motor neuron syndrome associated with matern..:

Attarian, S. ; Azulay, J. -Ph. ; Chabrol, B....
Neurology. 63 (2004) 2 - p. 379-381 , 2004

Link: https://doi.org/10.1212/..

4

Discriminative features in three autosomal recessive cutis ..:

Kariminejad, A ; Afroozan, F ; Bozorgmehr, B...
Kariminejad, A, Afroozan, F, Bozorgmehr, B, Ghanadan, A, Akbaroghli, S, Khorshid, H.R.K, Mojahedi, F, Setoodeh, A, Loh, A, Tan, Y.X, Escande-Beillard, N, Malfait, F, Reversade, B, Gardeitchik, T, Morava, E (2017). Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica. International Journal of Molecular Sciences 18 (3) : 635. ScholarBank@NUS Repository. https://doi.org/10.3390/ijms18030635. , 2017

Link: https://scholarbank.nus...

5

INTS13 variants causing a recessive developmental ciliopath..:

Mascibroda, Lauren G. ; Shboul, Mohammad ; Elrod, Nathan D....
Nature Communications. 13 (2022) 1 - p. , 2022

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

6

Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebr..:

Escande-Beillard, Nathalie ; Loh, Abigail ; Saleem, Sahar N....
Neuron. 107 (2020) 1 - p. 82-94.e6 , 2020

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

7

INTS13 variants causing a recessive developmental ciliopath..:

Mascibroda, Lauren G ; Shboul, Mohammad ; Elrod, Nathan D...
https://www.nature.com/articles/s41467-022-33547-8. , 2022

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

8

Recurrent De Novo Mutations Affecting Residue Arg1 38 of Py..:

Fischer-Zirnsak, Bjoern ; Escande-Beillard, Nathalie ; Ganesh, Jaya...
https://research.rug.nl/en/publications/1f0002eb-4e45-4ad1-9eb0-7b67e9270ecc. , 2015

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

9

INTS13 variants causing a recessive developmental ciliopath..:

Lauren G. Mascibroda ; Mohammad Shboul ; Nathan D. Elrod...
https://doi.org/10.1038/s41467-022-33547-8. , 2022

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

10

Author Correction: Mutations in PYCR1 cause cutis laxa with..:

Reversade, Bruno ; Escande-Beillard, Nathalie ; Dimopoulou, Aikaterini...
Nature Genetics. 54 (2022) 2 - p. 213-213 , 2022

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

11

Omics profiling identifies the regulatory functions of the ..:

Kwon, Hyuk Nam ; Kurtzeborn, Kristen ; Iaroshenko, Vladislav...
Development. 149 (2022) 19 - p. , 2022

Link: https://doi.org/10.1242/..

12

Incidental findings in a series of 2500 gene panel tests fo..:

Nambot, S. ; Sawka, C. ; Bertolone, G....
European Journal of Medical Genetics. 64 (2021) 5 - p. 104196 , 2021

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

13

Author Correction: Loss of MTX2 causes mandibuloacral dyspl..:

Elouej, Sahar ; Harhouri, Karim ; Mao, Morgane Le...
Nature Communications. 11 (2020) 1 - p. , 2020

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

14

Loss of MTX2 causes mandibuloacral dysplasia and links mito..:

Elouej, Sahar ; Harhouri, Karim ; Le Mao, Morgane...
Nature Communications. 11 (2020) 1 - p. , 2020

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

15

Metabolic pathway analyses identify proline biosynthesis pa..:

Ding, Zhaobing ; Ericksen, Russell E. ; Escande-Beillard, Nathalie...
Journal of Hepatology. 72 (2020) 4 - p. 725-735 , 2020

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