E-LIB Suche - Ergebnisse für: Briand-Suleau, Audrey

1

Droplet Digital PCR for Fast and Accurate Characterization ..:

Pacot, Laurence ; Ye, Manuela ; Nectoux, Juliette...
The Journal of Molecular Diagnostics. 26 (2024) 2 - p. 150-157 , 2024

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

2

Identification of potential common genetic modifiers of neu..:

Pacot, Laurence ; Sabbagh, Audrey ; Sohier, Pierre...
British Journal of Dermatology. , 2023

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

3

Contribution of whole genome sequencing in the molecular di..:

Pacot, Laurence ; Pelletier, Valerie ; Chansavang, Albain...
Human Genetics. 142 (2022) 1 - p. 1-9 , 2022

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

4

Noninvasive Prenatal Diagnosis of a Paternally Inherited ME..:

Huby, Thomas ; Le Guillou, Edouard ; Burin des Roziers, Cyril...
The Journal of Clinical Endocrinology & Metabolism. 107 (2021) 4 - p. e1367-e1373 , 2021

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

5

Severe Phenotype in Patients with Large Deletions of NF1:

Pacot, Laurence ; Vidaud, Dominique ; Sabbagh, Audrey...
Cancers. 13 (2021) 12 - p. 2963 , 2021

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

6

One NF1 Mutation may Conceal Another:

Pacot, Laurence ; Burin des Roziers, Cyril ; Laurendeau, Ingrid...
Genes. 10 (2019) 9 - p. 633 , 2019

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

7

FSHD1 and FSHD2 form a disease continuum:

Sacconi, Sabrina ; Briand-Suleau, Audrey ; Gros, Marilyn...
Neurology. 92 (2019) 19 - p. , 2019

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

8

NF1-like optic pathway gliomas in children: clinical and mo..:

Pasmant, Eric ; Grill, Jacques ; Brugieres, Laurence...
Neuro-Oncology Advances. 2 (2019) Supplement_1 - p. i98-i106 , 2019

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

9

Targeted next-generation sequencing for differential diagno..:

Louvrier, Camille ; Pasmant, Eric ; Briand-Suleau, Audrey...
Neuro-Oncology. 20 (2018) 7 - p. 917-929 , 2018

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

10

Molecular and cellular issues of KMT2A variants involved in..:

Lebrun, Nicolas ; Giurgea, Irina ; Goldenberg, Alice...
European Journal of Human Genetics. 26 (2017) 1 - p. 107-116 , 2017

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

11

Copy number variants and rasopathies: germline KRAS duplica..:

Gilbert-Dussardier, Brigitte ; Briand-Suleau, Audrey ; Laurendeau, Ingrid...
Orphanet Journal of Rare Diseases. 11 (2016) 1 - p. , 2016

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

12

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: A t..:

Brisset, Sophie ; Capri, Yline ; Briand-Suleau, Audrey...
European Journal of Medical Genetics. 58 (2015) 9 - p. 497-501 , 2015

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

13

Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 del..:

Raymond, Laure ; Francou, Bruno ; Petit, François...
European Journal of Medical Genetics. 58 (2015) 11 - p. 591-596 , 2015

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

14

Sub1 and Maf1, Two Effectors of RNA Polymerase III, Are Inv..:

Acker, Joël ; Nguyen, Ngoc-Thuy-Trinh ; Vandamme, Marie...
PLoS ONE. 9 (2014) 12 - p. e114587 , 2014

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

15

Anophthalmia, hearing loss, abnormal pituitary development ..:

Brisset, Sophie ; Slamova, Zuzana ; Dusatkova, Petra...
Molecular Cytogenetics. 7 (2014) 1 - p. , 2014

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