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Denommé‐Pichon, Anne‐Sophie
356
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Online (356)
Mediatypes
Articles (Online) (55)
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1
Developmental epileptic encephalopathy in DLG4‐related syna..:
Kassabian, Benedetta
;
Levy, Amanda M.
;
Gardella, Elena
...
Epilepsia. 65 (2024) 4 - p. 1029-1045 , 2024
Link:
https://doi.org/10.1111/..
?
2
Further description of two individuals with de novo p.(Glu1..:
Malbos, Marlène
;
Wakeling, Emma
;
Gautier, Thierry
...
Clinical Genetics. 105 (2024) 5 - p. 555-560 , 2024
Link:
https://doi.org/10.1111/..
?
3
Understanding the new BRD4‐related syndrome: Clinical and g..:
Jouret, Guillaume
;
Heide, Solveig
;
Sorlin, Arthur
...
Clinical Genetics. 102 (2022) 2 - p. 117-122 , 2022
Link:
https://doi.org/10.1111/..
?
4
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/..
?
5
Phenotypic characterization of seven individuals with Marba..:
Marbach, Felix
;
Lipska‐Ziętkiewicz, Beata S.
;
Knurowska, Agata
...
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2627-2636 , 2022
Link:
https://doi.org/10.1002/..
?
6
Interest of exome sequencing trio‐like strategy based on po..:
Tran Mau‐Them, Frederic
;
Duffourd, Yannis
;
Vitobello, Antonio
...
Molecular Genetics & Genomic Medicine. 9 (2021) 12 - p. , 2021
Link:
https://doi.org/10.1002/..
?
7
Congenital hypothyroidism and hearing loss without inner ea..:
Ziegler, Alban
;
Denommé‐Pichon, Anne‐Sophie
;
Boucher, Sophie
...
Clinical Genetics. 99 (2020) 4 - p. 604-606 , 2020
Link:
https://doi.org/10.1111/..
?
8
AICA‐ribosiduria due toATICdeficiency: Delineation of the p..:
Ramond, Francis
;
Rio, Marlène
;
Héron, Bénédicte
...
Journal of Inherited Metabolic Disease. 43 (2020) 6 - p. 1254-1264 , 2020
Link:
https://doi.org/10.1002/..
?
9
Next‐generation sequencing approaches and challenges in the..:
Bruel, Ange‐Line
;
Vitobello, Antonio
;
Tran Mau‐Them, Frédéric
...
Clinical Genetics. 98 (2020) 5 - p. 433-444 , 2020
Link:
https://doi.org/10.1111/..
?
10
A novel mutation in the transmembrane 6 domain of GABBR2 le..:
Vuillaume, Marie‐Laure
;
Jeanne, Médéric
;
Xue, Li
...
Annals of Neurology. 83 (2018) 2 - p. 437-439 , 2018
Link:
https://doi.org/10.1002/..
?
11
Structural variant calling and clinical interpretation in 6..:
Demidov, German
;
Laurie, Steven
;
Torella, Annalaura
...
European Journal of Human Genetics. 32 (2024) 8 - p. 998-1004 , 2024
Link:
https://doi.org/10.1038/..
?
12
Expectations, needs and mid-term outcomes in people accessi..:
Viora-Dupont, Eléonore
;
Robert, Françoise
;
Chassagne, Aline
...
European Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
13
Expansion of the neurodevelopmental phenotype of individual..:
Paulet, Alix
;
Bennett-Ness, Cavan
;
Ageorges, Faustine
...
European Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
14
Correction: Expansion of the neurodevelopmental phenotype o..:
Paulet, Alix
;
Bennett-Ness, Cavan
;
Ageorges, Faustine
...
European Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
15
Biallelic null variants in PNPLA8 cause microcephaly by red..:
Nakamura, Yuji
;
Shimada, Issei S
;
Maroofian, Reza
...
Brain. , 2024
Link:
https://doi.org/10.1093/..
1-15