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Chatron, Nicolas
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1

Clinico-biological refinement of BCL11B-related disorder an..:

Sabbagh, Quentin ; Haghshenas, Sadegheh ; Piard, Juliette...
Genetics in Medicine.  26 (2024)  1 - p. 101007 , 2024
Link: https://doi.org/10.1016/..
 
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2

Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome:..:

Pannier, Emmanuelle ; Sekri, Abel ; Roux, Nathalie...
Birth Defects Research.  116 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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3

Whole F8 gene sequencing identified pathogenic structural v..:

Jourdy, Yohann ; Chatron, Nicolas ; Frétigny, Mathilde...
Journal of Thrombosis and Haemostasis.  22 (2024)  6 - p. 1616-1626 , 2024
Link: https://doi.org/10.1016/..
 
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4

Molecular and Phenotypic Characterization of theRORB-Relate..:

Gokce-Samar, Zeynep ; Vetro, Annalisa ; De Bellescize, Julitta...
Neurology.  102 (2024)  2 - p. , 2024
Link: https://doi.org/10.1212/..
 
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5

Idiopathic generalized epilepsy in a family with SCN4A‐rela..:

Talarico, Mariagrazia ; Fortunato, Francesco ; Labalme, Audrey...
Epilepsia Open.  9 (2024)  3 - p. 951-959 , 2024
Link: https://doi.org/10.1002/..
 
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6

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/..
 
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7

Clinical and molecular cytogenetic studies of five new pati..:

Bensaid, Souad ; Bendahmane, Malika ; Loddo, Sara...
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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8

Loss of heterozygosity in CCM2 cDNA revealing a structural ..:

Chaussenot, Annabelle ; Ayrignac, Xavier ; Chatron, Nicolas...
European Journal of Human Genetics.  32 (2024)  7 - p. 876-878 , 2024
Link: https://doi.org/10.1038/..
 
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9

GRM7-related disorder: five additional patients from three ..:

Januel, Louis ; Chatron, Nicolas ; Rivier-Ringenbach, Clotilde...
European Journal of Medical Genetics.  67 (2024)  - p. 104893 , 2024
Link: https://doi.org/10.1016/..
 
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10

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/..
 
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11

Lessons from two series by physicians and caregivers' self‐..:

Ruault, Valentin ; Burger, Pauline ; Gradels‐Hauguel, Johanna...
Molecular Genetics & Genomic Medicine.  12 (2024)  1 - p. , 2024
Link: https://doi.org/10.1002/..
 
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12

GRIN1 variants associated with neurodevelopmental disorders..:

Ragnarsson, Lotten ; Zhang, Zihan ; Das, Sooraj S....
Epilepsia.  64 (2023)  12 - p. 3377-3388 , 2023
Link: https://doi.org/10.1111/..
 
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13

Clinical Cases and the Molecular Profiling of a Novel Child..:

Larasati, Yonika A. ; Solis, Gonzalo P. ; Koval, Alexey...
Cells.  12 (2023)  20 - p. 2469 , 2023
Link: https://doi.org/10.3390/..
 
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14

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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15

2p25.3 microduplications involving MYT1L: further phenotypi..:

Bouassida, Malek ; Egloff, Matthieu ; Levy, Jonathan...
European Journal of Human Genetics.  31 (2023)  8 - p. 895-904 , 2023
Link: https://doi.org/10.1038/..
 
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