E-LIB Suche - Ergebnisse für: Lyonnet, Stanislas

1

Next generation phenotyping for diagnosis and phenotype–gen..:

Hennocq, Quentin ; Willems, Marjolaine ; Amiel, Jeanne...
Scientific Reports. 14 (2024) 1 - p. , 2024

2

Genetics of congenitally corrected transposition of the gre..:

Benadjaoud, Yasmine ; Benko, Sabina ; Jabot Hanin, Fabienne...
Archives of Cardiovascular Diseases. 117 (2024) 6-7 - p. S198 , 2024

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

3

HDR syndrome: Large cohort and systematic review:

Rive Le Gouard, Nicolas ; Lafond‐Rive, Valentin ; Jonard, Laurence...
Clinical Genetics. , 2024

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

4

Artificial intelligence‐based diagnosis in fetal pathology ..:

Hennocq, Quentin ; Garcelon, Nicolas ; Bongibault, Thomas...
Prenatal Diagnosis. , 2024

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

5

AI-based diagnosis and phenotype – Genotype correlations in..:

Hennocq, Quentin ; Paternoster, Giovanna ; Collet, Corinne...
Journal of Cranio-Maxillofacial Surgery. , 2024

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

6

Objectivizing issues in the diagnosis of complex rare disea..:

Faviez, Carole ; Chen, Xiaoyi ; Garcelon, Nicolas...
BMC Medical Informatics and Decision Making. 24 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

7

Differential alternative splicing analysis links variation ..:

Hannes, Laurens ; Atzori, Marta ; Goldenberg, Alice...
Genetics in Medicine. 26 (2024) 4 - p. 101059 , 2024

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

8

Determinants of dental care use in patients with rare disea..:

Friedlander, Lisa ; Berdal, Ariane ; Cormier-Daire, Valérie..
BMC Oral Health. 23 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

9

An automatic facial landmarking for children with rare dise..:

Hennocq, Quentin ; Bongibault, Thomas ; Bizière, Matthieu...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1210-1221 , 2023

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

10

Bi-allelic loss-of-function variants in WBP4, encoding a sp..:

Engal, Eden ; Oja, Kaisa Teele ; Maroofian, Reza...
The American Journal of Human Genetics. 110 (2023) 12 - p. 2112-2119 , 2023

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

11

AI-based diagnosis in mandibulofacial dysostosis with micro..:

Hennocq, Quentin ; Bongibault, Thomas ; Marlin, Sandrine...
Frontiers in Pediatrics. 11 (2023) - p. , 2023

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

12

Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:

Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100168 , 2023

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

13

Neurodevelopmental disorders (NDD) without boundaries: rese..:

Louveau, Cécile ; Ellul, Pierre ; Iftimovici, Anton...
Journal of Neural Transmission. 130 (2023) 3 - p. 473-479 , 2023

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

14

Biallelic alterations in PLXND1 cause common arterial trunk..:

Guimier, Anne ; de Pontual, Loïc ; Braddock, Stephen R...
Human Molecular Genetics. 32 (2022) 3 - p. 353-356 , 2022

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

15

Patient-Patient Similarity-Based Screening of a Clinical Da..:

Chen, Xiaoyi ; Faviez, Carole ; Vincent, Marc...
Frontiers in Pharmacology. 13 (2022) - p. , 2022

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