E-LIB Suche - Ergebnisse für: Gueneau, Lucie

1

A de novo 13q31.3 microduplication encompassing the miR-17 ..:

Siavrienė, Evelina ; Preikšaitienė, Eglė ; Maldžienė, Živilė...
Gene. 753 (2020) - p. 144816 , 2020

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

2

De Novo Duplication in the CHD7 Gene Associated With Severe..:

Pranckėnienė, Laura ; Preikšaitienė, Eglė ; Gueneau, Lucie..
Genomics Insights. 12 (2019) - p. 117863101983901 , 2019

Link: https://doi.org/10.1177/..

3

FHL1 is a major host factor for chikungunya virus infection:

Meertens, Laurent ; Hafirassou, Mohamed Lamine ; Couderc, Thérèse...
Nature. 574 (2019) 7777 - p. 259-263 , 2019

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

4

Prenatal cerebral imaging features of a new syndromic entit..:

Cabet, Sara ; Putoux, Audrey ; Buenerd, Annie...
Prenatal Diagnosis. 40 (2019) 2 - p. 276-281 , 2019

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

5

Pathogenic homozygous variant in POMK gene is the cause of ..:

Preiksaitiene, Egle ; Voisin, Norine ; Gueneau, Lucie...
American Journal of Medical Genetics Part A. 182 (2019) 3 - p. 536-542 , 2019

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

6

De novo splice site variant of ARID1B associated with patho..:

Pranckėnienė, Laura ; Siavrienė, Evelina ; Gueneau, Lucie...
Molecular Genetics & Genomic Medicine. 7 (2019) 12 - p. , 2019

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

7

KIAA1109 Variants Are Associated with a Severe Disorder of ..:

Gueneau, Lucie ; Fish, Richard J. ; Shamseldin, Hanan E....
The American Journal of Human Genetics. 102 (2018) 1 - p. 116-132 , 2018

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

8

BRF1 mutations alter RNA polymerase III–dependent transcrip..:

Borck, Guntram ; Hög, Friederike ; Dentici, Maria Lisa...
Genome Research. 25 (2015) 2 - p. 155-166 , 2015

Link: https://doi.org/10.1101/..

9

A de novo microdeletion of SEMA5A in a boy with autism spec..:

Mosca-Boidron, Anne-Laure ; Gueneau, Lucie ; Huguet, Guillaume...
European Journal of Human Genetics. 24 (2015) 6 - p. 838-843 , 2015

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

10

A novel genetic variant in the transcription factor Islet‐1..:

Friedrich, Felix W. ; Dilanian, Gilles ; Khattar, Patricia...
European Journal of Heart Failure. 15 (2013) 3 - p. 267-276 , 2013

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

11

Congenital neutropenia with retinopathy, a new phenotype wi..:

Gueneau, Lucie ; Duplomb, Laurence ; Sarda, Pierre...
American Journal of Medical Genetics Part A. 164 (2013) 2 - p. 522-527 , 2013

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

12

Additional evidence to support the role of the 20q13.33 reg..:

Mosca‐Boidron, Anne‐Laure ; Valduga, Mylène ; Thauvin‐Robinet, Christel...
American Journal of Medical Genetics Part A. 161 (2013) 6 - p. 1505-1507 , 2013

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

13

Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy a..:

Malfatti, Edoardo ; Olivé, Montse ; Taratuto, Ana Lía...
Journal of Neuropathology & Experimental Neurology. 72 (2013) 9 - p. 833-845 , 2013

Link: https://doi.org/10.1097/..

14

Search for a gene responsible for Floating‐Harbor syndrome ..:

Lopez, Estelle ; Callier, Patrick ; Cormier‐Daire, Valérie...
American Journal of Medical Genetics Part A. 158A (2012) 2 - p. 333-339 , 2012

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

15

Systematic search for neutropenia should be part of the fir..:

Piard, Juliette ; Holder-Espinasse, Muriel ; Aral, Bernard...
European Journal of Medical Genetics. 55 (2012) 1 - p. 8-11 , 2012

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