E-LIB Suche - Ergebnisse für: Rio, Marlene

1

Reducing the imperviousness of urban soils to enhance the q..:

Gramaglia, Christelle ; Rio, Marlène ; Salles, Christian.
Journal of Hydrology. 636 (2024) - p. 131168 , 2024

2

New description of an MRPS2 homozygous patient: Further fea..:

Papadopoulos, Thalia ; Gaignard, Pauline ; Schiff, Manuel...
European Journal of Medical Genetics. 67 (2024) - p. 104889 , 2024

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

3

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

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

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

4

3q29 duplications: A cohort of 46 patients and a literature..:

Massier, Marie ; Doco‐Fenzy, Martine ; Egloff, Matthieu...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

5

De novo variants in DENND5B cause a neurodevelopmental diso..:

Scala, Marcello ; Tomati, Valeria ; Ferla, Matteo...
The American Journal of Human Genetics. 111 (2024) 3 - p. 529-543 , 2024

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

6

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/..

7

Investigating genotype‐to‐phenotype correlation in CHARGE s..:

Dana, Jérémy ; Dorval, Guillaume ; Martin, Christine Saint...
Clinical Genetics. 104 (2023) 4 - p. 466-471 , 2023

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

8

A non-coding variant in the Kozak sequence of RARS2 strongl..:

Nicolle, Romain ; Altin, Nami ; Siquier-Pernet, Karine...
BMC Medical Genomics. 16 (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

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/..

11

Identifying interindividual variability of social perceptio..:

Vinçon-Leite, Alice ; Saitovitch, Ana ; Lemaître, Herve...
Cerebral Cortex. 34 (2023) 1 - p. , 2023

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

12

Clinical and radiological description of 120 pediatric stro..:

Durrleman, Chloe ; Grevent, David ; Aubart, Melodie...
European Journal of Neurology. 30 (2023) 7 - p. 2051-2061 , 2023

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

13

Clinical and genomic delineation of the new proximal 19p13...:

Jouret, Guillaume ; Egloff, Matthieu ; Landais, Emilie...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 52-63 , 2022

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

14

Publisher Correction: Discovery of a genetic module essenti..:

Szenker-Ravi, Emmanuelle ; Ott, Tim ; Khatoo, Muznah...
Nature Genetics. 54 (2022) 6 - p. 906-906 , 2022

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

15

Retrospective evaluation of clinical and molecular data of ..:

Ranza, Emmanuelle ; Le Gouez, Morgane ; Guimier, Anne...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 77-83 , 2022

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