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Mathilde Nizon
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1

USP27Xvariants underlying X-linked intellectual disability ..:

Koch, Intisar ; Slovik, Maya ; Zhang, Yuling...
Life Science Alliance.  7 (2024)  3 - p. e202302258 , 2024
Link: https://doi.org/10.26508..
 
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Heterozygous loss-of-function variants in DOCK4 cause neuro..:

Herbst, Charlotte ; Bothe, Viktoria ; Wegler, Meret...
Human Genetics.  143 (2024)  3 - p. 455-469 , 2024
Link: https://doi.org/10.1007/..
 
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3

De novo variants predicting haploinsufficiency for DIP2C ar..:

Ha, Thoa ; Morgan, Angela ; Bartos, Meghan N....
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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4

Penetrance, variable expressivity and monogenic neurodevelo..:

de Masfrand, Servane ; Cogné, Benjamin ; Nizon, Mathilde...
European Journal of Medical Genetics.  69 (2024)  - p. 104932 , 2024
Link: https://doi.org/10.1016/..
 
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5

Pathogenic variants in KMT2C result in a neurodevelopmental..:

Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor...
The American Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1016/..
 
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6

Expanding SPTAN1 monoallelic variant associated disorders: ..:

Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa...
Genetics in Medicine.  25 (2023)  1 - p. 76-89 , 2023
Link: https://doi.org/10.1016/..
 
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7

Two novel MBTPS2 missense mutations impairing S2P proteolyt..:

Caengprasath, Natarin ; Nizon, Mathilde ; Panchaprateep, Ratchathorn...
Journal of Dermatological Science.  112 (2023)  3 - p. 166-169 , 2023
Link: https://doi.org/10.1016/..
 
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8

Response to a letter to the editor:

Jury, Jeanne ; Nizon, Mathilde ; Cogné, Benjamin.
neurogenetics.  , 2023
Link: https://doi.org/10.1007/..
 
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9

Author Correction: Possible association of 16p11.2 copy num..:

Giannuzzi, Giuliana ; Chatron, Nicolas ; Mannik, Katrin...
npj Genomic Medicine.  8 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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10

Growth charts in DYRK1A syndrome:

Lanvin, Pierre‐Louis ; Goronflot, Thomas ; Isidor, Bertrand...
American Journal of Medical Genetics Part A.  194 (2023)  1 - p. 9-16 , 2023
Link: https://doi.org/10.1002/..
 
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11

Abnormalities of the corpus callosum. Can prenatal imaging ..:

Nguyen, Toan ; Heide, Solveig ; Guilbaud, Lucie...
Prenatal Diagnosis.  43 (2023)  6 - p. 746-755 , 2023
Link: https://doi.org/10.1002/..
 
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12

Clinical, neuroradiological, and molecular characterization..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
Genetics in Medicine.  25 (2023)  11 - p. 100938 , 2023
Link: https://doi.org/10.1016/..
 
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13

Loss-of-function variants in SRRM2 cause a neurodevelopment..:

Cuinat, Silvestre ; Nizon, Mathilde ; Isidor, Bertrand...
Genetics in Medicine.  24 (2022)  8 - p. 1774-1780 , 2022
Link: https://doi.org/10.1016/..
 
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14

First evidence of SOX2 mutations in Peters' anomaly: Lesson..:

Chesneau, Bertrand ; Aubert‐Mucca, Marion ; Fremont, Félix...
Clinical Genetics.  101 (2022)  5-6 - p. 494-506 , 2022
Link: https://doi.org/10.1111/..
 
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15

Expanding the genotype and phenotype spectrum of SYT1-assoc..:

Melland, Holly ; Bumbak, Fabian ; Kolesnik-Taylor, Anna...
Genetics in Medicine.  24 (2022)  4 - p. 880-893 , 2022
Link: https://doi.org/10.1016/..
 
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