E-LIB Suche - Ergebnisse für: Marey, Isabelle

1

Growth charts in DYRK1A syndrome:

Lanvin, Pierre‐Louis ; Goronflot, Thomas ; Isidor, Bertrand...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 9-16 , 2023

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

2

Hyperechoic Content of the Fetal Colon Is Not Always Cystin..:

Knapke, Antje ; Bourdat Michel, Guylhène ; Marey, Isabelle.
Frontiers in Pediatrics. 9 (2022) - p. , 2022

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

3

Psychomotor development in infants and young children with ..:

Sacco, Silvia ; Bouis, Charles ; Gallard, Jennifer...
American Journal of Medical Genetics Part A. 188 (2021) 3 - p. 818-827 , 2021

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

4

Elp2 mutations perturb the epitranscriptome and lead to a c..:

Kojic, Marija ; Gawda, Tomasz ; Gaik, Monika...
Nature Communications. 12 (2021) 1 - p. , 2021

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

5

Clinical impact of post-mortem genetic testing in cardiac d..:

Marey, Isabelle ; Fressart, Véronique ; Rambaud, Caroline...
Open Medicine. 15 (2020) 1 - p. 435-446 , 2020

Link: https://doi.org/10.1515/..

6

Thyroid hormone and folinic acid in young children with Dow..:

Mircher, Clotilde ; Sacco, Silvia ; Bouis, Charles...
Genetics in Medicine. 22 (2020) 1 - p. 44-52 , 2020

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

7

Widening of the genetic and clinical spectrum of Lamb–Shaff..:

Zawerton, Ash ; Mignot, Cyril ; Sigafoos, Ashley...
Genetics in Medicine. 22 (2020) 3 - p. 524-537 , 2020

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

8

ZMYND11‐related syndromic intellectual disability: 16 patie..:

Yates, Thabo M. ; Drucker, Morgan ; Barnicoat, Angela...
Human Mutation. 41 (2020) 5 - p. 1042-1050 , 2020

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

9

Expanding the genetic and phenotypic relevance ofKCNB1varia..:

Bar, Claire ; Barcia, Giulia ; Jennesson, Mélanie...
Human Mutation. 41 (2019) 1 - p. 69-80 , 2019

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

10

Author Correction: A framework to identify contributing gen..:

Tabet, Anne-Claude ; Rolland, Thomas ; Ducloy, Marie...
npj Genomic Medicine. 4 (2019) 1 - p. , 2019

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

11

Genetic variants in components of the NALCN–UNC80–UNC79 ion..:

Bramswig, Nuria C. ; Bertoli-Avella, Aida M. ; Albrecht, Beate...
Human Genetics. 137 (2018) 9 - p. 753-768 , 2018

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

12

De Novo Truncating Mutations in WASF1 Cause Intellectual Di..:

Ito, Yoko ; Carss, Keren J. ; Duarte, Sofia T....
The American Journal of Human Genetics. 103 (2018) 1 - p. 144-153 , 2018

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

13

Copy Number Variations Found in Patients with a Corpus Call..:

Heide, Solveig ; Keren, Boris ; Billette de Villemeur, Thierry...
The Journal of Pediatrics. 185 (2017) - p. 160-166.e1 , 2017

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

14

Acute Regression in Young People with Down Syndrome:

Mircher, Clotilde ; Cieuta-Walti, Cécile ; Marey, Isabelle...
Brain Sciences. 7 (2017) 6 - p. 57 , 2017

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

15

Acute regression in young people with Down Syndrome:

Cieuta-Walti, Cécile ; Mircher, Clotilde ; Rebillat, Anne-Sophie...
European Journal of Paediatric Neurology. 21 (2017) - p. e23 , 2017

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