E-LIB Suche - Ergebnisse für: Miguet, Marguerite

1

Copy Number Variation and epilepsy: state of the art in the..:

Baer, Sarah ; Schalk, Audrey ; Miguet, Marguerite...
Pediatric Neurology. , 2024

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

2

A Central Role of Telomere Dysfunction in the Formation of ..:

M'Kacher, Radhia ; Miguet, Marguerite ; Maillard, Pierre-Yves...
Genes. 13 (2022) 10 - p. 1762 , 2022

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

3

Telomere aberrations, including telomere loss, doublets, an..:

M'kacher, Radhia ; Colicchio, Bruno ; Marquet, Valentine...
Fertility and Sterility. 115 (2021) 1 - p. 164-173 , 2021

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

4

Telomere and Centromere Staining Followed by M-FISH Improve..:

M'kacher, Radhia ; Colicchio, Bruno ; Borie, Claire...
Genes. 11 (2020) 5 - p. 475 , 2020

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

5

Biallelic variants in the transcription factor PAX7 are a n..:

Feichtinger, René G. ; Mucha, Bettina E. ; Hengel, Holger...
Genetics in Medicine. 21 (2019) 11 - p. 2521-2531 , 2019

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

6

High Rate of Recurrent De Novo Mutations in Developmental a..:

Hamdan, Fadi F. ; Myers, Candace T. ; Cossette, Patrick...
The American Journal of Human Genetics. 101 (2017) 5 - p. 664-685 , 2017

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

7

Affected female carriers of MTM1 mutations display a wide s..:

Biancalana, Valérie ; Scheidecker, Sophie ; Miguet, Marguerite...
Acta Neuropathologica. 134 (2017) 6 - p. 889-904 , 2017

Link: https://doi.org/10.1007/..

8

Uncommon nucleotide excision repair phenotypes revealed by ..:

Calmels, Nadège ; Greff, Géraldine ; Obringer, Cathy...
Orphanet Journal of Rare Diseases. 11 (2016) 1 - p. , 2016

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

9

Mutations in theERCC2(XPD) gene associated with severe feta..:

Miguet, Marguerite ; Thevenon, Julien ; Laugel, Vincent...
Prenatal Diagnosis. 36 (2016) 13 - p. 1276-1279 , 2016

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

10

Bi-allelic variants in WNT7B disrupt the development of mul..:

Bouasker, Samir ; Patel, Nisha ; Greenlees, Rebecca...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2022-108475. , 2022

Link: https://u-paris.hal.scie..

11

Bi-allelic variants in WNT7B disrupt the development of mul..:

Bouasker, Samir ; Patel, Nisha ; Greenlees, Rebecca...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2022-108475. , 2022

Link: https://u-paris.hal.scie..

12

Bi-allelic variants in WNT7B disrupt the development of mul..:

Bouasker, Samir ; Patel, Nisha ; Greenlees, Rebecca...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2022-108475. , 2022

Link: https://u-paris.hal.scie..

13

A Central Role of Telomere Dysfunction in the Formation of ..:

M'Kacher, Radhia ; Miguet, Marguerite ; Maillard, Pierre-Yves...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601474/. , 2022

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

14

Bi-allelic variants in WNT7B disrupt the development of mul..:

Bouasker, Samir ; Patel, Nisha ; Greenlees, Rebecca...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2022-108475. , 2022

Link: https://u-paris.hal.scie..

15

Bi-allelic variants in WNT7B disrupt the development of mul..:

Bouasker, Samir ; Patel, Nisha ; Greenlees, Rebecca...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2022-108475. , 2022

Link: https://u-paris.hal.scie..