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Messiaen, Ludwine
176
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Online (176)
Mediatypes
Articles (Online) (100)
Bookchapter (Online) (1)
OpenAccess-fulltext (75)
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1
Targeted exon skipping of NF1 exon 17 as a therapeutic for ..:
Leier, André
;
Moore, Marc
;
Liu, Hui
...
Molecular Therapy - Nucleic Acids. 28 (2022) - p. 261-278 , 2022
Link:
https://doi.org/10.1016/..
?
2
Revised diagnostic criteria and nomenclature for neurofibro..:
Plotkin, Scott
;
Messiaen, Ludwine
;
Legius, Eric
...
Neurology. 98 (2022) 18_supplement - p. , 2022
Link:
https://doi.org/10.1212/..
?
3
eP330: Mosaicism for SMARCB1 or LZTR1 variants in patients ..:
Chen, Yunjia
;
Gomes, Alicia
;
Dong, Juan
.
Genetics in Medicine. 24 (2022) 3 - p. S206-S207 , 2022
Link:
https://doi.org/10.1016/..
?
4
Revised diagnostic criteria for neurofibromatosis type 1 an..:
Plotkin, Scott
;
Messiaen, Ludwine
;
Wolkenstein, Pierre
...
Neurology. 98 (2022) 18_supplement - p. , 2022
Link:
https://doi.org/10.1212/..
?
5
Updated diagnostic criteria and nomenclature for neurofibro..:
Plotkin, Scott R.
;
Messiaen, Ludwine
;
Legius, Eric
...
Genetics in Medicine. 24 (2022) 9 - p. 1967-1977 , 2022
Link:
https://doi.org/10.1016/..
?
6
Revised diagnostic criteria for neurofibromatosis type 1 an..:
Legius, Eric
;
Messiaen, Ludwine
;
Wolkenstein, Pierre
...
Genetics in Medicine. 23 (2021) 8 - p. 1506-1513 , 2021
Link:
https://doi.org/10.1038/..
?
7
Natural history of NF1 c.2970_2972del p.(Met992del): confir..:
Forde, Claire
;
Burkitt-Wright, Emma
;
Turnpenny, Peter D.
...
European Journal of Human Genetics. 30 (2021) 3 - p. 291-297 , 2021
Link:
https://doi.org/10.1038/..
?
8
AG‐exclusion zone revisited: Lessons to learn from 91 intro..:
Wimmer, Katharina
;
Schamschula, Esther
;
Wernstedt, Annekatrin
...
Human Mutation. 41 (2020) 6 - p. 1145-1156 , 2020
Link:
https://doi.org/10.1002/..
?
9
Constitutional mismatch repair deficiency is the diagnosis ..:
Perez-Valencia, Juan A.
;
Gallon, Richard
;
Chen, Yunjia
...
Genetics in Medicine. 22 (2020) 12 - p. 2081-2088 , 2020
Link:
https://doi.org/10.1038/..
?
10
First International Conference on RASopathies and Neurofibr..:
Rauen, Katherine A.
;
Alsaegh, Abeer
;
Ben‐Shachar, Shay
...
American Journal of Medical Genetics Part A. 179 (2019) 6 - p. 1091-1097 , 2019
Link:
https://doi.org/10.1002/..
?
11
TMOD-23. PRECLINICAL DRUG EVALUATION IN A GENETICALLY ENGIN..:
Osum, Sara
;
Stemmer-Rachamimov, Anat
;
Widemann, Brigitte
...
Neuro-Oncology. 21 (2019) Supplement_6 - p. vi267-vi267 , 2019
Link:
https://doi.org/10.1093/..
?
12
Child Neurology: Spastic paraparesis and dystonia with a no..:
Dean, Marissa
;
Messiaen, Ludwine
;
Cooper, Gregory M.
...
Neurology. 93 (2019) 11 - p. 510-514 , 2019
Link:
https://doi.org/10.1212/..
?
13
Extreme clustering of type-1 NF1 deletion breakpoints co-lo..:
Summerer, Anna
;
Mautner, Victor-Felix
;
Upadhyaya, Meena
...
Human Genetics. 137 (2018) 6-7 - p. 511-520 , 2018
Link:
https://doi.org/10.1007/..
?
14
Genetically engineered minipigs model the major clinical fe..:
Isakson, Sara H.
;
Rizzardi, Anthony E.
;
Coutts, Alexander W.
...
Communications Biology. 1 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1038/..
?
15
Ultra-deep amplicon sequencing indicates absence of low-gra..:
Summerer, Anna
;
Schäfer, Eleonora
;
Mautner, Victor-Felix
...
Human Genetics. 138 (2018) 1 - p. 73-81 , 2018
Link:
https://doi.org/10.1007/..
1-15