E-LIB Suche - Ergebnisse für: Marlin, Sandrine

1

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

Massier, Marie ; Doco‐Fenzy, Martine ; Egloff, Matthieu...
American Journal of Medical Genetics Part A. , 2024

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

2

Artificial intelligence‐based diagnosis in fetal pathology ..:

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

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

3

Two induced pluripotent stem cell (iPSC) lines derived from..:

Alkobtawi, Mansour ; Pla, Patrick ; Onteniente, Brigitte...
Stem Cell Research. 69 (2023) - p. 103074 , 2023

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

4

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/..

5

A 22q13.1 duplication in mosaicism including SOX10:

Bertani‐Torres, William ; Serey‐Gaut, Margaux ; de Oliveira, Judite...
American Journal of Medical Genetics Part A. 191 (2023) 12 - p. 2813-2818 , 2023

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

6

RIPOR2: A new gene of non‐syndromic cochleovestibular dysfu..:

Morel, Godelieve ; Ernest, Sylvain ; Serey‐Gaut, Margaux...
Clinical Genetics. 104 (2023) 6 - p. 669-673 , 2023

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

7

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/..

8

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/..

9

Mild MDPL in a patient with a novel de novo missense varian..:

Chopra, Maya ; Caswell, Richard ; Barcia, Giulia...
European Journal of Human Genetics. 30 (2022) 8 - p. 960-966 , 2022

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

10

Retinal Phenotype of Patients withCLRN1-Associated Usher 3A..:

Smirnov, Vasily M. ; Nassisi, Marco ; Mohand-Saïd, Saddek...
Investigative Opthalmology & Visual Science. 63 (2022) 4 - p. 25 , 2022

Link: https://doi.org/10.1167/..

11

Refining the clinical phenotype associated with missense va..:

Tharreau, Mylène ; Garde, Aurore ; Marlin, Sandrine...
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1600-1606 , 2022

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

12

Toward clinical and molecular dissection of frontonasal dys..:

Lehalle, Daphné ; Bruel, Ange‐Line ; Vitobello, Antonio...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2036-2047 , 2022

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

13

Further delineation of auriculocondylar syndrome based on 1..:

Vegas, Nancy ; Demir, Zeynep ; Gordon, Christopher T....
Human Mutation. 43 (2022) 5 - p. 582-594 , 2022

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

14

Arterial spin labeling brain MRI study to evaluate the impa..:

Coez, Arnaud ; Fillon, Ludovic ; Saitovitch, Ana...
NeuroImage: Clinical. 29 (2021) - p. 102510 , 2021

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

15

Variants in USP48 encoding ubiquitin hydrolase are associat..:

Bassani, Sissy ; van Beelen, Edward ; Rossel, Mireille...
Human Molecular Genetics. 30 (2021) 19 - p. 1785-1796 , 2021

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