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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
Analysis of 200 unrelated individuals with a constitutional..:
Koczkowska, Magdalena
;
Chen, Yunjia
;
Xie, Jing
...
Human Genetics. 142 (2023) 7 - p. 849-861 , 2023
Link:
https://doi.org/10.1007/..
?
2
Analysis of 200 unrelated individuals with a constitutional..:
Koczkowska, Magdalena
;
Chen, Yunjia
;
Xie, Jing
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329576/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
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
Re‐evaluation of missense variant classifications inNF2:
Sadler, Katherine V.
;
Rowlands, Charlie F.
;
Smith, Philip T.
...
Human Mutation. 43 (2022) 5 - p. 643-654 , 2022
Link:
https://doi.org/10.1002/..
?
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..:
Plotkin, Scott
;
Messiaen, Ludwine
;
Wolkenstein, Pierre
...
Neurology. 98 (2022) 18_supplement - p. , 2022
Link:
https://doi.org/10.1212/..
?
7
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/..
?
8
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/..
?
9
Targeted exon skipping of NF1 exon 17 as a therapeutic for ..:
André Leier
;
Marc Moore
;
Hui Liu
...
http://www.sciencedirect.com/science/article/pii/S2162253122000609. , 2022
Link:
https://doi.org/10.1016/..
?
10
Natural history of NF1 c.2970_2972del p.(Met992del): confir..:
Forde, Claire
;
Burkitt-Wright, Emma
;
Turnpenny, Peter D
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-021-01015-4. , 2022
Link:
https://hal.science/hal-..
?
11
Updated diagnostic criteria and nomenclature for neurofibro..:
Plotkin, Scott
;
Messiaen, Ludwine
;
Legius, Eric
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.05.007. , 2022
Link:
https://hal.inrae.fr/hal..
?
12
Updated diagnostic criteria and nomenclature for neurofibro..:
Plotkin, Scott
;
Messiaen, Ludwine
;
Legius, Eric
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.05.007. , 2022
Link:
https://hal.inrae.fr/hal..
?
13
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/..
?
14
Typical 22q11.2 deletion syndrome appears to confer a reduc..:
Evans, D. Gareth
;
Messiaen, Ludwine M.
;
Foulkes, William D.
...
Genetics in Medicine. 23 (2021) 9 - p. 1779-1782 , 2021
Link:
https://doi.org/10.1038/..
?
15
Targeted massively parallel sequencing of candidate regions..:
Piotrowski, Arkadiusz
;
Koczkowska, Magdalena
;
Poplawski, Andrzej B.
...
Human Mutation. 43 (2021) 1 - p. 74-84 , 2021
Link:
https://doi.org/10.1002/..
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