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Tran Mau-Them, Frédéric
328
results:
Search for persons
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Format
Online (328)
Mediatypes
Articles (Online) (61)
OpenAccess-fulltext (267)
Languages
english (294)
french (4)
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1
Extending the clinical spectrum of X-linked Tonne-Kalscheue..:
Cuinat, Silvestre
;
Quélin, Chloé
;
Effray, Claire
...
Journal of Medical Genetics. , 2024
Link:
https://doi.org/10.1136/..
?
2
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/..
?
3
Combining globally search for a regular expression and prin..:
Tran Mau-Them, Frédéric
;
Overs, Alexis
;
Bruel, Ange-Line
...
Frontiers in Genetics. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
4
Stepwise use of genomics and transcriptomics technologies i..:
Colin, Estelle
;
Duffourd, Yannis
;
Chevarin, Martin
...
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
5
SRSF1 haploinsufficiency is responsible for a syndromic dev..:
Bogaert, Elke
;
Garde, Aurore
;
Gautier, Thierry
...
The American Journal of Human Genetics. 110 (2023) 5 - p. 790-808 , 2023
Link:
https://doi.org/10.1016/..
?
6
Gain-of-function MYCN causes a megalencephaly-polydactyly s..:
Nishio, Yosuke
;
Kato, Kohji
;
Tran Mau-Them, Frederic
...
Human Genetics and Genomics Advances. 4 (2023) 4 - p. 100238 , 2023
Link:
https://doi.org/10.1016/..
?
7
The neurodevelopmental and facial phenotype in individuals ..:
Aerden, Mio
;
Denommé-Pichon, Anne-Sophie
;
Bonneau, Dominique
...
European Journal of Human Genetics. 31 (2023) 4 - p. 461-468 , 2023
Link:
https://doi.org/10.1038/..
?
8
Prenatal diagnosis by trio exome sequencing in fetuses with..:
Tran Mau-Them, Frédéric
;
Delanne, Julian
;
Denommé-Pichon, Anne-Sophie
...
Frontiers in Genetics. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
9
ADGRL1 haploinsufficiency causes a variable spectrum of neu..:
Vitobello, Antonio
;
Mazel, Benoit
;
Lelianova, Vera G.
...
The American Journal of Human Genetics. 109 (2022) 8 - p. 1436-1457 , 2022
Link:
https://doi.org/10.1016/..
?
10
OMIXCARE: OMICS technologies solved about 33% of the patien..:
Colin, Estelle
;
Duffourd, Yannis
;
Tisserant, Emilie
...
Frontiers in Cell and Developmental Biology. 10 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
11
Systematic analysis and prediction of genes associated with..:
Leitão, Elsa
;
Schröder, Christopher
;
Parenti, Ilaria
...
Nature Communications. 13 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1038/..
?
12
The different clinical facets of SYN1-related neurodevelopm..:
Parenti, Ilaria
;
Leitão, Elsa
;
Kuechler, Alma
...
Frontiers in Cell and Developmental Biology. 10 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
13
Bi-allelic variants in DOHH, catalyzing the last step of hy..:
Ziegler, Alban
;
Steindl, Katharina
;
Hanner, Ashleigh S.
...
The American Journal of Human Genetics. 109 (2022) 8 - p. 1549-1558 , 2022
Link:
https://doi.org/10.1016/..
?
14
Generation of an iPSC line (UNINAi001-A) from a girl with n..:
Longobardi, Elena
;
Miceli, Francesco
;
Secondo, Agnese
...
Stem Cell Research. 53 (2021) - p. 102311 , 2021
Link:
https://doi.org/10.1016/..
?
15
EIF3F-related neurodevelopmental disorder: refining the phe..:
UCLA California Center for Rare Disease
;
Hüffmeier, Ulrike
;
Kraus, Cornelia
...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
1-15