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Hanna, Nadine
355  Ergebnisse:
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1

Pathogenic variants affecting the TB5 domain of the fibrill..:

Arnaud, Pauline ; Mougin, Zakaria ; Baujat, Genevieve...
Journal of Medical Genetics.  , 2024
Link: https://doi.org/10.1136/..
 
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2

Early-Onset Aortic Dissection: Characterization of a New Pa..:

Arnaud, Pauline ; Cadenet, Margaux ; Mougin, Zakaria...
Human Mutation.  2023 (2023)  - p. 1-7 , 2023
Link: https://doi.org/10.1155/..
 
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3

Genotype-Mitral Valve Phenotype Correlations in Marfan Synd..:

Delhomme, Clémence ; Milleron, Olivier ; Arnoult, Florence...
JACC: Advances.  1 (2022)  5 - p. 100149 , 2022
Link: https://doi.org/10.1016/..
 
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4

Clinical relevance of genotype–phenotype correlations beyon..:

Arnaud, Pauline ; Milleron, Olivier ; Hanna, Nadine...
Genetics in Medicine.  23 (2021)  7 - p. 1296-1304 , 2021
Link: https://doi.org/10.1038/..
 
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5

A Giant Abdominal Aortic Aneurysm Revealing a Marfan Syndro..:

Filippetti, Laura ; Dufrost, Virginie ; Busby-Venner, Hélène...
Canadian Journal of Cardiology.  37 (2021)  11 - p. 1870-1872 , 2021
Link: https://doi.org/10.1016/..
 
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6

The natural history of a family with aortic dissection asso..:

Delsart, Pascal ; Vanlerberghe, Clémence ; Juthier, Francis...
Annals of Vascular Surgery.  77 (2021)  - p. 348.e7-348.e11 , 2021
Link: https://doi.org/10.1016/..
 
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7

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 pr..:

Elbitar, Sandy ; Renard, Marjolijn ; Arnaud, Pauline...
Genetics in Medicine.  23 (2021)  1 - p. 111-122 , 2021
Link: https://doi.org/10.1038/..
 
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8

Unsuspected somatic mosaicism for FBN1 gene contributes to ..:

Arnaud, Pauline ; Morel, Hélène ; Milleron, Olivier...
Genetics in Medicine.  23 (2021)  5 - p. 865-871 , 2021
Link: https://doi.org/10.1038/..
 
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9

Quantifying the Genetic Basis of Marfan Syndrome Clinical V..:

Grange, Thomas ; Aubart, Mélodie ; Langeois, Maud...
Genes.  11 (2020)  5 - p. 574 , 2020
Link: https://doi.org/10.3390/..
 
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10

Phenotypic spectrum of TGFB3 disease‐causing variants in a ..:

Marsili, Luisa ; Overwater, Eline ; Hanna, Nadine...
Clinical Genetics.  97 (2020)  5 - p. 723-730 , 2020
Link: https://doi.org/10.1111/..
 
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11

Analysis of transcript-deleterious variants in Mendelian di..:

Maddirevula, Sateesh ; Kuwahara, Hiroyuki ; Ewida, Nour...
Genome Biology.  21 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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12

Clinical and genetic data of 22 new patients with SMAD3 pat..:

Chesneau, Bertrand ; Edouard, Thomas ; Dulac, Yves...
Molecular Genetics & Genomic Medicine.  8 (2020)  5 - p. , 2020
Link: https://doi.org/10.1002/..
 
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13

A new mutational hotspot in the SKI gene in the context of ..:

Arnaud, Pauline ; Racine, Caroline ; Hanna, Nadine...
Human Genetics.  139 (2020)  4 - p. 461-472 , 2020
Link: https://doi.org/10.1007/..
 
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14

Genetic diversity and pathogenic variants as possible predi..:

Arnaud, Pauline ; Hanna, Nadine ; Benarroch, Louise...
Genetics in Medicine.  21 (2019)  9 - p. 2015-2024 , 2019
Link: https://doi.org/10.1038/..
 
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15

Reference Expression Profile of Three FBN1 Transcript Isofo..:

Benarroch, Louise ; Aubart, Mélodie ; Gross, Marie-Sylvie...
Genes.  10 (2019)  2 - p. 128 , 2019
Link: https://doi.org/10.3390/..
 
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