E-LIB Suche - Ergebnisse für: Putoux, A.

1

Prenatal diagnosis of microcephaly with simplified gyral pa..:

Cabet, S. ; Putoux, A. ; Lesca, G....
Ultrasound in Obstetrics & Gynecology. 63 (2024) 2 - p. 271-275 , 2024

2

STAG2 microduplication in a patient with eyelid myoclonia a..:

Gokce-Samar, Z. ; de Bellescize, J. ; Arzimanoglou, A....
European Journal of Medical Genetics. 65 (2022) 12 - p. 104636 , 2022

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

3

EP08.02: Cerebral imaging features of a new syndromic entit..:

Guibaud, L. ; Putoux, A. ; Cabet, S....
Ultrasound in Obstetrics & Gynecology. 52 (2018) S1 - p. 222-222 , 2018

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

4

Three new cases of asparagine synthetase deficiency: Confir..:

Faoucher, M. ; Putoux, A. ; Francannet, C....
European Journal of Paediatric Neurology. 21 (2017) - p. e63 , 2017

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

5

Next-generation sequencing (NGS) is a powerful tool to impr..:

Labalme, A. ; Chatron, N. ; Till, M....
European Journal of Paediatric Neurology. 21 (2017) - p. e52 , 2017

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

6

Prenatal diagnosis of cobblestone lissencephaly associated ..:

Lacalm, A. ; Nadaud, B. ; Massoud, M....
Ultrasound in Obstetrics & Gynecology. 47 (2016) 1 - p. 117-122 , 2016

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

7

Refining the phenotypical and mutational spectrum of Taybi‐..:

Putoux, A. ; Alqahtani, A. ; Pinson, L....
Clinical Genetics. 90 (2016) 6 - p. 550-555 , 2016

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

8

A series of 38 novel germline and somatic mutations ofNIPBL..:

Nizon, M. ; Henry, M. ; Michot, C....
Clinical Genetics. 89 (2016) 5 - p. 584-589 , 2016

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

9

Incidental findings on array comparative genomic hybridizat..:

Nguyen, K. ; Putoux, A. ; Busa, T....
Clinical Genetics. 87 (2014) 5 - p. 488-491 , 2014

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

10

SFRP-11 – Recherche clinique – Remaniement complexe du chro..:

Putoux, A. ; Andre, J.M. ; Till, M....
Archives de Pédiatrie. 15 (2008) 5 - p. 1034 , 2008

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

11

SFP-P116 – Génétique – Les syndromes marfanoïdes : quel pro..:

Putoux, A. ; Topa, A. ; Douchin, S....
Archives de Pédiatrie. 15 (2008) 5 - p. 977-978 , 2008

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

12

B‐cell immune deficiency in twin sisters expands the phenot..:

Gauthier, Lucas W. ; Gossez, Morgane ; Malcus, Christophe...
Clinical Genetics. , 2024

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

13

Expectations, needs and mid-term outcomes in people accessi..:

Viora-Dupont, Eléonore ; Robert, Françoise ; Chassagne, Aline...
European Journal of Human Genetics. , 2024

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

14

Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome:..:

Pannier, Emmanuelle ; Sekri, Abel ; Roux, Nathalie...
Birth Defects Research. 116 (2024) 7 - p. , 2024

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

15

Autosomal recessive pathogenic MSTO1 variants in hereditary..:

Gerber, Sylvie ; Lessard, Lola ; Rouzier, Cécile...
EMBO Molecular Medicine. 15 (2023) 8 - p. , 2023

Link: https://doi.org/10.15252..