E-LIB Suche - Ergebnisse für: Marsili, Luisa

1

Prevalence and phenotypes associated with ALPK3 null varian..:

Ader, Flavie ; Jedraszak, Guillaume ; Janin, Alexandre...
Clinical Genetics. 105 (2024) 6 - p. 676-682 , 2024

2

Management and outcomes of pregnant women with cardiovascul..:

Richardson, Marjorie ; Bonnet, Jean Philippe ; Coulon, Capucine...
Archives of Cardiovascular Diseases. 117 (2024) 5 - p. 343-350 , 2024

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

3

Variant Location Is a Novel Risk Factor for Individuals Wit..:

Hoorntje, Edgar T. ; Burns, Charlotte ; Marsili, Luisa...
Circulation: Genomic and Precision Medicine. 16 (2023) 1 - p. , 2023

Link: https://doi.org/10.1161/..

4

MYH7 p.(Arg1712Gln) is pathogenic founder variant causing h..:

Marsili, Luisa ; van Lint, Freyja H. M. ; Russo, Francesco...
Netherlands Heart Journal. 31 (2023) 7-8 - p. 300-307 , 2023

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

5

Obstetrical outcomes in cases of maternal heart disease wit..:

Demeyère, Mathilde ; Richardson, Marjorie ; Deken, Valerie...
Journal of Gynecology Obstetrics and Human Reproduction. 52 (2023) 3 - p. 102537 , 2023

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

6

Towards a Better Understanding of Genotype–Phenotype Correl..:

Vermeer, Mathilde C. S. C. ; Andrei, Daniela ; Marsili, Luisa...
International Journal of Molecular Sciences. 23 (2022) 18 - p. 10765 , 2022

Link: https://doi.org/10.3390/..

7

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/..

8

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/..

9

Outcomes of 4 years of molecular genetic diagnosis on a pan..:

Grelet, Maude ; Blanck, Véronique ; Sigaudy, Sabine...
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

10

Results of next-generation sequencing gene panel diagnostic..:

Overwater, Eline ; Marsili, Luisa ; Baars, Marieke J.H....
Human Mutation. 39 (2018) 9 - p. 1173-1192 , 2018

Link: https://doi.org/10.1002/..

11

Cerebral cavernous malformations associated to meningioma: ..:

Garaci, Francesco ; Marsili, Luisa ; Riant, Florence...
The Neuroradiology Journal. 28 (2015) 3 - p. 289-293 , 2015

Link: https://doi.org/10.1177/..

12

Transumbilical Single-Access Laparoscopic Perforated Gastri..:

Dapri, Giovanni ; Mourad, Haicam El ; Himpens, Jacques...
Surgical Innovation. 19 (2011) 2 - p. 130-133 , 2011

Link: https://doi.org/10.1177/..

13

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...

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. , 2023

Link: https://univ-rennes.hal...

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...