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Sanlaville, Damien
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1

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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2

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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3

Creatinine levels in French children with Down syndrome up ..:

Pautonnier, Joanna ; Goutte, Sylvie ; Dubourg, Laurence Derain...
European Journal of Pediatrics.  183 (2024)  4 - p. 1953-1957 , 2024
Link: https://doi.org/10.1007/..
 
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4

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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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

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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7

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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8

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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9

Case report: 7p22.3 deletion and 8q24.3 duplication in a pa..:

Touhami, Rahma ; Foddha, Hajer ; Alix, Eudeline...
Frontiers in Genetics.  13 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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10

Cat eye syndrome: Clinical, cytogenetics and familial findi..:

Jedraszak, Guillaume ; Jobic, Florence ; Receveur, Aline...
American Journal of Medical Genetics Part A.  194 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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11

Overview of the Genetic Causes of Hereditary Breast and Ova..:

Bouras, Ahmed ; Guidara, Souhir ; Leone, Mélanie...
Cancers.  15 (2023)  13 - p. 3420 , 2023
Link: https://doi.org/10.3390/..
 
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12

Familial transmission of chromoanagenesis leads to unpredic..:

Masson, Julie ; Pebrel‐Richard, Céline ; Egloff, Matthieu...
Clinical Genetics.  103 (2023)  4 - p. 401-412 , 2023
Link: https://doi.org/10.1111/..
 
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13

Kidney and urological involvement in Down syndrome: frequen..:

Ranchin, Bruno ; Bidault, Valeska ; Zekre, Franck...
Pediatric Nephrology.  39 (2023)  2 - p. 347-355 , 2023
Link: https://doi.org/10.1007/..
 
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14

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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15

CLINICAL UTILITY OF SYSTEMATIC CGH-ARRAY GENETIC TESTING IN..:

Rey, Romain ; Poisson, Alice ; Lio, Guillaume...
European Neuropsychopharmacology.  63 (2022)  - p. e158 , 2022
Link: https://doi.org/10.1016/..
 
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