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Valence, Stéphanie
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1

Prenatal diagnosis of pontocerebellar hypoplasia with postn..:

Jaillard, Alienor ; Valence, Stéphanie ; Vande Perre, Saskia...
Prenatal Diagnosis.  44 (2024)  1 - p. 35-48 , 2024
Link: https://doi.org/10.1002/..
 
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2

First reports of fetal SMARCC1 related hydrocephalus:

Rive Le Gouard, Nicolas ; Nicolle, Romain ; Lefebvre, Mathilde...
European Journal of Medical Genetics.  66 (2023)  8 - p. 104797 , 2023
Link: https://doi.org/10.1016/..
 
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3

Gain-of-function variants in the ion channel gene TRPM3 und..:

Van Hoeymissen, Evelien ; Burglen, Lydie ; Qebibo, Leila...
eLife.  12 (2023)  - p. , 2023
Link: https://doi.org/10.7554/..
 
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4

BRAT1–related disorders: phenotypic spectrum and phenotype-..:

Engel, Camille ; Valence, Stéphanie ; Delplancq, Geoffroy...
European Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
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5

Abnormalities of the corpus callosum. Can prenatal imaging ..:

Nguyen, Toan ; Heide, Solveig ; Guilbaud, Lucie...
Prenatal Diagnosis.  43 (2023)  6 - p. 746-755 , 2023
Link: https://doi.org/10.1002/..
 
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6

Prenatal diagnosis of vermian cyst: a new type of posterior..:

Chanclud, Justine ; Valence, Stéphanie ; Perre, Saskia Vande...
Pediatric Radiology.  53 (2022)  3 - p. 461-469 , 2022
Link: https://doi.org/10.1007/..
 
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7

Area Postrema Syndrome as the Initial Presentation of Alexa..:

Renaldo, Florence ; Chalard, François ; Valence, Stephanie..
Neurology.  97 (2021)  11 - p. 548-549 , 2021
Link: https://doi.org/10.1212/..
 
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8

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/..
 
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9

Three novel patients with epileptic encephalopathy due to b..:

Desprairies, Camille ; Valence, Stéphanie ; Maurey, Hélène...
Clinical Genetics.  97 (2020)  3 - p. 477-482 , 2020
Link: https://doi.org/10.1111/..
 
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10

Expanding the genotype–phenotype correlation of de novo het..:

Kanani, Farah ; Titheradge, Hannah ; Cooper, Nicola...
American Journal of Medical Genetics Part A.  182 (2020)  4 - p. 713-720 , 2020
Link: https://doi.org/10.1002/..
 
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11

Prenatal exome sequencing in 65 fetuses with abnormality of..:

Heide, Solveig ; Spentchian, Myrtille ; Valence, Stéphanie...
Genetics in Medicine.  22 (2020)  11 - p. 1887-1891 , 2020
Link: https://doi.org/10.1038/..
 
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12

Exome sequencing in congenital ataxia identifies two new ca..:

Valence, Stéphanie ; Cochet, Emmanuelle ; Rougeot, Christelle...
Genetics in Medicine.  21 (2019)  3 - p. 553-563 , 2019
Link: https://doi.org/10.1038/..
 
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13

AMPA receptor GluA2 subunit defects are a cause of neurodev..:

Salpietro, Vincenzo ; Dixon, Christine L. ; Guo, Hui...
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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14

Three new cases of ataxia‐telangiectasia‐like disorder: No ..:

Fiévet, Alice ; Bellanger, Dorine ; Valence, Stéphanie...
Human Mutation.  40 (2019)  10 - p. 1690-1699 , 2019
Link: https://doi.org/10.1002/..
 
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15

A decision tree for the genetic diagnosis of deficiency of ..:

Rama, Mélanie ; Duflos, Claire ; Melki, Isabelle...
European Journal of Human Genetics.  26 (2018)  7 - p. 960-971 , 2018
Link: https://doi.org/10.1038/..
 
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