E-LIB Suche - Ergebnisse für: Lemyre, Emmanuelle

1

The impact of comparative genomic hybridization/single‐nucl..:

Gourmel, Antoine ; Perrault, Héloïse ; Colaiacovo, Marie‐Laure...
Pediatric Blood & Cancer. 71 (2024) 9 - p. , 2024

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

2

P822: Navigating genetic risk: Mapping variant's probabilit..:

England, Jade ; Huguet, Guillaume ; Jizi, Khadijé...
Genetics in Medicine Open. 2 (2024) - p. 101733 , 2024

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

3

Bi‐allelic variants in MYH3 cause recessively‐inherited art..:

Morali, Burcin ; Miranda, Valancy ; Raelson, John...
Clinical Genetics. , 2024

Link: https://doi.org/10.1111/..

4

Mild phenotypes in patients with different deletions in the..:

Miranda, Valancy ; Sabeh, Pascale ; Seiltgens, Cristian...
European Journal of Human Genetics. , 2024

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

5

P332: A homozygous POU3F2 polyproline tract expansion is as..:

Tremblay-Laganière, Camille ; Ehresmann, Sophie ; Levtova, Alina...
Genetics in Medicine Open. 1 (2023) 1 - p. 100360 , 2023

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

6

Genome-wide analysis of gene dosage in 24,092 individuals e..:

Huguet, Guillaume ; Schramm, Catherine ; Douard, Elise...
Molecular Psychiatry. 26 (2021) 6 - p. 2663-2676 , 2021

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

7

F75THE TRUE CONTRIBUTION OF THE 15Q11.2 BP1-BP2 DELETION TO..:

Jønch, Aia ; Douard, Elise ; Moreau, Clara...
European Neuropsychopharmacology. 29 (2019) - p. S1150-S1151 , 2019

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

8

Left Superior Vena Cava in the Fetus: A Rarely Isolated Ano..:

Minsart, Anne-Frédérique ; Boucoiran, Isabelle ; Delrue, Marie-Ange...
Pediatric Cardiology. 41 (2019) 2 - p. 230-236 , 2019

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

9

A new microdeletion syndrome involving TBC1D24, ATP6V0C, an..:

Mucha, Bettina E. ; Banka, Siddharth ; Ajeawung, Norbert Fonya...
Genetics in Medicine. 21 (2019) 5 - p. 1058-1064 , 2019

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

10

Correction: A new microdeletion syndrome involving TBC1D24,..:

Mucha, Bettina E. ; Banka, Siddharth ; Ajeawung, Norbert Fonya...
Genetics in Medicine. 21 (2019) 9 - p. 2159-2160 , 2019

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

11

PTPRD copy number variants and Ewing's sarcoma: Strengtheni..:

Saskin, Avi ; Seath, Kimberly ; Tihy, Frederique...
Cancer Genetics. 235-236 (2019) - p. 28-30 , 2019

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

12

Genomic study of severe fetal anomalies and discovery of GR..:

Boissel, Sarah ; Fallet-Bianco, Catherine ; Chitayat, David...
Genetics in Medicine. 20 (2018) 7 - p. 745-753 , 2018

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

13

NUP98‐BPTF gene fusion identified in primary refractory acu..:

Roussy, Mathieu ; Bilodeau, Mélanie ; Jouan, Loubna...
Genes, Chromosomes and Cancer. 57 (2018) 6 - p. 311-319 , 2018

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

14

FRMPD4 mutations cause X-linked intellectual disability and..:

Piard, Juliette ; Hu, Jia-Hua ; Campeau, Philippe M...
Human Molecular Genetics. 27 (2017) 4 - p. 589-600 , 2017

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

15

Indexing Effects of Copy Number Variation on Genes Involved..:

Uddin, Mohammed ; Pellecchia, Giovanna ; Thiruvahindrapuram, Bhooma...
Scientific Reports. 6 (2016) 1 - p. , 2016

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