E-LIB Suche - Ergebnisse für: Denommé-Pichon, Anne-Sophie - Sprache DE

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1

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/..

2

Structural variant calling and clinical interpretation in 6..:

Demidov, German ; Laurie, Steven ; Torella, Annalaura...
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

3

Correction: Expansion of the neurodevelopmental phenotype o..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

4

Expansion of the neurodevelopmental phenotype of individual..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

5

YWHAE loss of function causes a rare neurodevelopmental dis..:

Denommé-Pichon, Anne-Sophie ; Collins, Stephan C. ; Bruel, Ange-Line...
Genetics in Medicine. 25 (2023) 7 - p. 100835 , 2023

Link: https://doi.org/10.1016/..

6

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
Genetics in Medicine. 25 (2023) 4 - p. 100018 , 2023

Link: https://doi.org/10.1016/..

7

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/..

8

Exome sequencing in the etiologic assessment of the stroke ..:

Mania-Pâris, Loraine ; Thomas, Quentin ; Vitobello, Antonio...
Journal of the Neurological Sciences. 455 (2023) - p. 121942 , 2023

Link: https://doi.org/10.1016/..

9

Delineation of the adult phenotype of Coffin–Siris syndrome..:

Schmetz, Ariane ; Lüdecke, Hermann-Josef ; Surowy, Harald...
Human Genetics. 143 (2023) 1 - p. 71-84 , 2023

Link: https://doi.org/10.1007/..

10

Mobile element insertions in rare diseases: a comparative b..:

Wijngaard, Robin ; Demidov, German ; O'Gorman, Luke...
European Journal of Human Genetics. , 2023

Link: https://doi.org/10.1038/..

11

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/..

12

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
European Journal of Human Genetics. , 2023

Link: https://doi.org/10.1038/..

13

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/..

14

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/..

15

Correction: Mobile element insertions in rare diseases: a c..:

Wijngaard, Robin ; Demidov, German ; O'Gorman, Luke...
European Journal of Human Genetics. , 2023

Link: https://doi.org/10.1038/..

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