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Tran Mau-Them, Frédéric
327  results:
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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/..
 
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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/..
 
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3

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/..
 
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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/..
 
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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/..
 
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6

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/..
 
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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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

Accelerated genome sequencing with controlled costs for inf..:

Denommé-Pichon, Anne-Sophie ; Vitobello, Antonio ; Olaso, Robert...
European Journal of Human Genetics.  30 (2021)  5 - p. 567-576 , 2021
Link: https://doi.org/10.1038/..
 
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15

Nucleocytoplasmic transport of the RNA-binding protein CELF..:

MacPherson, Melissa J. ; Erickson, Sarah L. ; Kopp, Drayden...
Cell Reports.  35 (2021)  10 - p. 109226 , 2021
Link: https://doi.org/10.1016/..
 
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