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Marlin, Sandrine
279
results:
Search for persons
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Format
Online (279)
Mediatypes
Articles (Online) (73)
Bookchapter (Online) (1)
OpenAccess-fulltext (205)
Languages
english (251)
french (2)
Sorted by: Relevance
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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. 194 (2024) 7 - p. , 2024
Link:
https://doi.org/10.1002/..
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2
Artificial intelligence‐based diagnosis in fetal pathology ..:
Hennocq, Quentin
;
Garcelon, Nicolas
;
Bongibault, Thomas
...
Prenatal Diagnosis. , 2024
Link:
https://doi.org/10.1002/..
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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/..
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4
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/..
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5
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/..
?
6
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/..
?
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/..
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8
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/..
?
9
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/..
?
10
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/..
?
11
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/..
?
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/..
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13
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/..
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14
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/..
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15
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/..
1-15