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Bouvagnet, Patrice
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1

Antenatal description of large 4q13.2q21.23 deletion and ou..:

Giguet‐Valard, Anna‐Gaëlle ; Thevenin, Christelle ; Dreux, Sophie...
Molecular Genetics & Genomic Medicine.  12 (2024)  2 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

Functional analysis of germline VANGL2 variants using rescu..:

Derrick, Christopher J ; Szenker-Ravi, Emmanuelle ; Santos-Ledo, Adrian...
Human Molecular Genetics.  33 (2023)  2 - p. 150-169 , 2023
Link: https://doi.org/10.1093/..
 
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3

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five..:

Mary, Laura ; Chennen, Kirsley ; Stoetzel, Corinne...
Clinical Genetics.  95 (2019)  3 - p. 384-397 , 2019
Link: https://doi.org/10.1111/..
 
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4

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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5

Two patients with the heterozygous R189H mutation in ACTA2 ..:

Logeswaran, Thushiha ; Friedburg, Christoph ; Hofmann, Karoline...
American Journal of Medical Genetics Part A.  173 (2017)  9 - p. 2566-2566 , 2017
Link: https://doi.org/10.1002/..
 
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6

Two patients with the heterozygous R189H mutation in ACTA2 ..:

Logeswaran, Thushiha ; Friedburg, Christoph ; Hofmann, Karoline...
American Journal of Medical Genetics Part A.  173 (2017)  4 - p. 959-965 , 2017
Link: https://doi.org/10.1002/..
 
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7

TRPM4 non-selective cation channel variants in long QT synd..:

Hof, Thomas ; Liu, Hui ; Sallé, Laurent...
BMC Medical Genetics.  18 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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8

Familial co-occurrence of congenital heart defects follows ..:

Ellesøe, Sabrina G ; Workman, Christopher T ; Bouvagnet, Patrice...
European Heart Journal.  39 (2017)  12 - p. 1015-1022 , 2017
Link: https://doi.org/10.1093/..
 
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9

A HAND to TBX5 Explains the Link Between Thalidomide and Ca..:

Khalil, Athar ; Tanos, Rachel ; El-Hachem, Nehmé...
Scientific Reports.  7 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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10

TOUT-DE-TRAVERS (TDT): A novel protease mutated in patients..:

Szenker, Emmanuelle ; de Bellaing, Anne Moreau ; Narasimhan, Vijay...
Mechanisms of Development.  145 (2017)  - p. S36-S37 , 2017
Link: https://doi.org/10.1016/..
 
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11

0292: Cardiac phenotype and prognosis of patients with muta..:

Maury, Philippe ; Baruteau, Alban ; Gandjbakhch, Estelle...
Archives of Cardiovascular Diseases Supplements.  8 (2016)  1 - p. 100 , 2016
Link: https://doi.org/10.1016/..
 
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12

Mutations in RIT1 cause Noonan syndrome with possible juven..:

Cavé, Hélène ; Caye, Aurélie ; Ghedira, Nehla...
European Journal of Human Genetics.  24 (2016)  8 - p. 1124-1131 , 2016
Link: https://doi.org/10.1038/..
 
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13

High prevalence of arrhythmic and myocardial complications ..:

Thevenon, Julien ; Laurent, Gabriel ; Ader, Flavie...
Europace.  , 2016
Link: https://doi.org/10.1093/..
 
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14

P2 Cardiac phenotype and prognosis of patients with mutatio..:

Maury, Philippe ; Baiuteau, Alban ; Gandjbakhch, Estelle...
Archives of Cardiovascular Diseases Supplements.  7 (2015)  4 - p. 263 , 2015
Link: https://doi.org/10.1016/..
 
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15

TRPM4 in cardiac electrical activity:

Guinamard, Romain ; Bouvagnet, Patrice ; Hof, Thomas...
Cardiovascular Research.  108 (2015)  1 - p. 21-30 , 2015
Link: https://doi.org/10.1093/..
 
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