E-LIB Suche - Ergebnisse für: Estelle Colin

1

Diagnosis of tuberous sclerosis in the prenatal period: a r..:

Milon, Vincent ; Malinge, Marie-Claire ; Blanluet, Maud...
European Journal of Human Genetics. , 2024

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

2

Correction: Diagnosis of tuberous sclerosis in the prenatal..:

Milon, Vincent ; Malinge, Marie-Claire ; Blanluet, Maud...
European Journal of Human Genetics. , 2024

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

3

Stepwise use of genomics and transcriptomics technologies i..:

Colin, Estelle ; Duffourd, Yannis ; Chevarin, Martin...
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023

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

4

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
European Journal of Human Genetics. , 2023

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

5

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, e..:

Faqeih, Eissa A. ; Alghamdi, Malak Ali ; Almahroos, Marwa A....
Genetics in Medicine. 25 (2023) 2 - p. 100323 , 2023

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

6

Prenatal diagnosis by trio exome sequencing in fetuses with..:

Tran Mau-Them, Frédéric ; Delanne, Julian ; Denommé-Pichon, Anne-Sophie...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

7

Publisher Correction: Discovery of a genetic module essenti..:

Szenker-Ravi, Emmanuelle ; Ott, Tim ; Khatoo, Muznah...
Nature Genetics. 54 (2022) 6 - p. 906-906 , 2022

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

8

OMIXCARE: OMICS technologies solved about 33% of the patien..:

Colin, Estelle ; Duffourd, Yannis ; Tisserant, Emilie...
Frontiers in Cell and Developmental Biology. 10 (2022) - p. , 2022

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

9

Neuropsychological Features of Children and Adolescents Wit..:

Riquin, Elise ; Barth, Magalie ; Le Nerzé, Thomas...
Frontiers in Psychiatry. 13 (2022) - p. , 2022

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

10

ACO2 clinicobiological dataset with extensive phenotype ont..:

Guehlouz, Khadidja ; Foulonneau, Thomas ; Amati-Bonneau, Patrizia...
Scientific Data. 8 (2021) 1 - p. , 2021

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

11

Bi-allelic variants in IPO8 cause a connective tissue disor..:

Ziegler, Alban ; Duclaux-Loras, Rémi ; Revenu, Céline...
The American Journal of Human Genetics. 108 (2021) 6 - p. 1126-1137 , 2021

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

12

Utility of genetic testing for prenatal presentations of hy..:

Sperelakis-Beedham, Brian ; Taillandier, Agnès ; Domingues, Christelle...
Molecular Genetics and Metabolism. 132 (2021) 3 - p. 198-203 , 2021

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

13

MYT1L-associated neurodevelopmental disorder: description o..:

Coursimault, Juliette ; Guerrot, Anne-Marie ; Morrow, Michelle M....
Human Genetics. 141 (2021) 1 - p. 65-80 , 2021

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

14

Integrative approach to interpret DYRK1A variants, leading ..:

Courraud, Jérémie ; Chater-Diehl, Eric ; Durand, Benjamin...
Genetics in Medicine. 23 (2021) 11 - p. 2150-2159 , 2021

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

15

Myoclonic dystonia phenotype related to a novel calmodulin-..:

Dzinovic, Ivana ; Serranová, Tereza ; Prouteau, Clement...
neurogenetics. 22 (2021) 2 - p. 137-141 , 2021

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