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Sanlaville, Damien
707
results:
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Online (707)
Mediatypes
Articles (Online) (153)
OpenAccess-fulltext (554)
Sorted by: Relevance
Sorted by: Year
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1
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/..
?
2
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/..
?
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/..
?
4
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/..
?
5
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/..
?
6
Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 du..:
Billes, Alexis
;
Pujalte, Mathilde
;
Jedraszak, Guillaume
...
Clinical Genetics. 106 (2024) 3 - p. 234-246 , 2024
Link:
https://doi.org/10.1111/..
?
7
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/..
?
8
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/..
?
9
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/..
?
10
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/..
?
11
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/..
?
12
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/..
?
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/..
?
14
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/..
?
15
Prenatal imaging features related to RAC3 pathogenic varian..:
Cabet, Sara
;
Vasiljevic, Alexandre
;
Putoux, Audrey
...
Prenatal Diagnosis. 42 (2022) 4 - p. 478-481 , 2022
Link:
https://doi.org/10.1002/..
1-15