E-LIB Suche - Ergebnisse für: Amiel, Jeanne

1

Clinico-biological refinement of BCL11B-related disorder an..:

Sabbagh, Quentin ; Haghshenas, Sadegheh ; Piard, Juliette...
Genetics in Medicine. 26 (2024) 1 - p. 101007 , 2024

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

2

TREX tetramer disruption alters RNA processing necessary fo..:

Werren, Elizabeth A. ; LaForce, Geneva R. ; Srivastava, Anshika...
Nature Communications. 15 (2024) 1 - p. , 2024

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

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

Artificial intelligence‐based diagnosis in fetal pathology ..:

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

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

5

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/..

6

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/..

7

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/..

8

Bi-allelic variations in CRB2, encoding the crumbs cell pol..:

Tessier, Aude ; Roux, Nathalie ; Boutaud, Lucile...
Acta Neuropathologica Communications. 11 (2023) 1 - p. , 2023

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

9

Developmental outcome of children with Robin sequence treat..:

Fleurance, Alix ; Leunen, Dorothée ; Végas, Nancy...
Acta Paediatrica. 112 (2023) 12 - p. 2601-2610 , 2023

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

10

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/..

11

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/..

12

Heterozygous rare variants in NR2F2 cause a recognizable mu..:

Ganapathi, Mythily ; Matsuoka, Leticia S. ; March, Michael...
European Journal of Human Genetics. 31 (2023) 10 - p. 1117-1124 , 2023

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

13

Unexpected Inheritance Patterns in a Large Cohort of Patien..:

Gouronc, Aurélie ; Javey, Elodie ; Leuvrey, Anne-Sophie...
Human Mutation. 2023 (2023) - p. 1-7 , 2023

Link: https://doi.org/10.1155/..

14

Low risk of embryonic and other cancers in PIK3CA‐related o..:

Faivre, Laurence ; Crépin, Jean‐Charles ; Réda, Manon...
Clinical Genetics. 104 (2023) 5 - p. 554-563 , 2023

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

15

Mandibulofacial dysostosis with alopecia results from ETAR ..:

Kurihara, Yukiko ; Ekimoto, Toru ; Gordon, Christopher T....
Journal of Clinical Investigation. 133 (2023) 4 - p. , 2023

Link: https://doi.org/10.1172/..