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Lederer, Damien
161  results:
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1

GABRA1‐Related Disorders: From Genetic to Functional Pathwa..:

Musto, Elisa ; Liao, Vivian W. Y. ; Johannesen, Katrine M....
Annals of Neurology.  95 (2023)  1 - p. 27-41 , 2023
Link: https://doi.org/10.1002/..
 
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2

Clinical and Neurophysiologic Phenotypes in Neonates WithBR..:

Carapancea, Evelina ; Cornet, Marie-Coralie ; Milh, Mathieu...
Neurology.  100 (2023)  12 - p. , 2023
Link: https://doi.org/10.1212/..
 
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3

Germline pathogenic variants in HNRNPU are associated with ..:

Lee, Sunwoo ; Ochoa, Eguzkine ; Badura-Stronka, Magdalena...
European Journal of Human Genetics.  31 (2023)  9 - p. 1040-1047 , 2023
Link: https://doi.org/10.1038/..
 
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4

Precision medicine: Vinpocetine as a potential treatment fo..:

Mandelenaki, Despoina ; Juvené, Elodie ; Lederer, Damien.
Epileptic Disorders.  25 (2023)  3 - p. 383-389 , 2023
Link: https://doi.org/10.1002/..
 
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5

SLC6A1 variant pathogenicity, molecular function and phenot..:

Stefanski, Arthur ; Pérez-Palma, Eduardo ; Brünger, Tobias...
Brain.  146 (2023)  12 - p. 5198-5208 , 2023
Link: https://doi.org/10.1093/..
 
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6

Natural history of KBG syndrome in a large European cohort:

Loberti, Lorenzo ; Bruno, Lucia Pia ; Granata, Stefania...
Human Molecular Genetics.  31 (2022)  24 - p. 4131-4142 , 2022
Link: https://doi.org/10.1093/..
 
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7

Adaptive behavior and psychiatric comorbidities in KCNB1 en..:

Bar, Claire ; Breuillard, Delphine ; Kuchenbuch, Mathieu...
Epilepsy & Behavior.  126 (2022)  - p. 108471 , 2022
Link: https://doi.org/10.1016/..
 
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8

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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9

ASC1 complex related conditions: Two novel paediatric patie..:

Dembour, Alexis ; Destrée, Anne ; Deprez, Marie...
European Journal of Medical Genetics.  65 (2022)  4 - p. 104469 , 2022
Link: https://doi.org/10.1016/..
 
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10

Phenotypes and genotypes in non‐consanguineous and consangu..:

Duerinckx, Sarah ; Désir, Julie ; Perazzolo, Camille...
Molecular Genetics & Genomic Medicine.  9 (2021)  9 - p. , 2021
Link: https://doi.org/10.1002/..
 
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11

Neonatal presentation of genetic epilepsies: Early differen..:

Cornet, Marie‐Coralie ; Morabito, Valeria ; Lederer, Damien...
Epilepsia.  62 (2021)  8 - p. 1907-1920 , 2021
Link: https://doi.org/10.1111/..
 
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12

IQSEC2 disorder: A new disease entity or a Rett spectrum co..:

Lopergolo, Diego ; Privitera, Flavia ; Castello, Giuseppe...
Clinical Genetics.  99 (2021)  3 - p. 462-474 , 2021
Link: https://doi.org/10.1111/..
 
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13

Outcome of publicly funded nationwide first-tier noninvasiv..:

Van Den Bogaert, Kris ; Lannoo, Lore ; Brison, Nathalie...
Genetics in Medicine.  23 (2021)  6 - p. 1137-1142 , 2021
Link: https://doi.org/10.1038/..
 
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14

The clinical and genetic spectrum in infants with (an) unpr..:

van Roest, Aalt ; Van de Vel, Anouk ; Lederer, Damien.
European Journal of Paediatric Neurology.  24 (2020)  - p. 148-153 , 2020
Link: https://doi.org/10.1016/..
 
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15

A clinical scoring system for congenital contractural arach..:

Meerschaut, Ilse ; De Coninck, Shana ; Steyaert, Wouter...
Genetics in Medicine.  22 (2020)  1 - p. 124-131 , 2020
Link: https://doi.org/10.1038/..
 
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