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Jean-Marçais, Nolwenn
132  Ergebnisse:
Personensuche X
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1

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/..
 
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2

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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3

The diagnostic rate of inherited metabolic disorders by exo..:

Delanne, Julian ; Bruel, Ange-Line ; Huet, Frédéric...
Molecular Genetics and Metabolism Reports.  29 (2021)  - p. 100812 , 2021
Link: https://doi.org/10.1016/..
 
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4

Primrose syndrome: a phenotypic comparison of patients with..:

Juven, Aurélien ; Nambot, Sophie ; Piton, Amélie...
European Journal of Human Genetics.  28 (2020)  8 - p. 1044-1055 , 2020
Link: https://doi.org/10.1038/..
 
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5

Second-tier trio exome sequencing after negative solo clini..:

Tran Mau-Them, Frederic ; Moutton, Sebastien ; Racine, Caroline...
Human Genetics.  139 (2020)  11 - p. 1381-1390 , 2020
Link: https://doi.org/10.1007/..
 
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6

Comprehensive In Vivo Interrogation Reveals Phenotypic Impa..:

Kvon, Evgeny Z. ; Zhu, Yiwen ; Kelman, Guy...
Cell.  180 (2020)  6 - p. 1262-1271.e15 , 2020
Link: https://doi.org/10.1016/..
 
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7

Secondary actionable findings identified by exome sequencin..:

Thauvin-Robinet, Christel ; Thevenon, Julien ; Nambot, Sophie...
European Journal of Human Genetics.  27 (2019)  8 - p. 1197-1214 , 2019
Link: https://doi.org/10.1038/..
 
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8

2.5 years' experience of GeneMatcher data-sharing: a powerf..:

Bruel, Ange-Line ; Vitobello, Antonio ; Mau-Them, Frédéric Tran...
Genetics in Medicine.  21 (2019)  7 - p. 1657-1661 , 2019
Link: https://doi.org/10.1038/..
 
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9

Increased diagnostic and new genes identification outcome u..:

Orphanomix Physician's Group ; Bruel, Ange-Line ; Nambot, Sophie...
European Journal of Human Genetics.  27 (2019)  10 - p. 1519-1531 , 2019
Link: https://doi.org/10.1038/..
 
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10

Exome sequencing in clinical settings: preferences and expe..:

Chassagne, Aline ; Pélissier, Aurore ; Houdayer, Françoise...
European Journal of Human Genetics.  27 (2019)  5 - p. 701-710 , 2019
Link: https://doi.org/10.1038/..
 
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11

A Recurrent De Novo PACS2 Heterozygous Missense Variant Cau..:

Olson, Heather E. ; Jean-Marçais, Nolwenn ; Yang, Edward...
The American Journal of Human Genetics.  102 (2018)  5 - p. 995-1007 , 2018
Link: https://doi.org/10.1016/..
 
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12

Clinical whole-exome sequencing for the diagnosis of rare d..:

Nambot, Sophie ; Thevenon, Julien ; Kuentz, Paul...
Genetics in Medicine.  20 (2018)  6 - p. 645-654 , 2018
Link: https://doi.org/10.1038/..
 
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13

Disruption of the ATXN1–CIC complex causes a spectrum of ne..:

Lu, Hsiang-Chih ; Tan, Qiumin ; Rousseaux, Maxime W C...
Nature Genetics.  49 (2017)  4 - p. 527-536 , 2017
Link: https://doi.org/10.1038/..
 
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14

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x.  , 2024
Link: https://univ-rennes.hal...
 
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15

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x.  , 2023
Link: https://univ-rennes.hal...
 
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