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Alexandre Janin
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1

Functional and clinical characterization of a novel homozyg..:

Delinière, Antoine ; Jaupart, Laureen ; Janin, Alexandre...
Gene.  897 (2024)  - p. 148076 , 2024
Link: https://doi.org/10.1016/..
 
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2

Relevance of Extending FGFR3 Gene Analysis in Osteochondrod..:

Ouedraogo, Zangbéwendé Guy ; Janel, Caroline ; Janin, Alexandre...
Genes.  15 (2024)  2 - p. 225 , 2024
Link: https://doi.org/10.3390/..
 
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3

Prevalence and phenotypes associated with ALPK3 null varian..:

Ader, Flavie ; Jedraszak, Guillaume ; Janin, Alexandre...
Clinical Genetics.  105 (2024)  6 - p. 676-682 , 2024
Link: https://doi.org/10.1111/..
 
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4

Use of minigene assays as a useful tool to confirm the path..:

Lunati‐Rozie, Ariane ; Janin, Alexandre ; Faubert, Emmanuelle...
British Journal of Haematology.  201 (2023)  4 - p. , 2023
Link: https://doi.org/10.1111/..
 
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5

Tectonic Evolution of a Sedimented Oceanic Transform Fault:..:

Janin, Alexandre ; Chamot‐Rooke, Nicolas ; Delescluse, Matthias...
Tectonics.  42 (2023)  5 - p. , 2023
Link: https://doi.org/10.1029/..
 
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6

APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A ..:

Vanhoye, Xavier ; Janin, Alexandre ; Caillaud, Amandine...
International Journal of Molecular Sciences.  23 (2022)  8 - p. 4281 , 2022
Link: https://doi.org/10.3390/..
 
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7

Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrela..:

Janin, Alexandre ; Perouse de Montclos, Thomas ; Nguyen, Karine...
Molecular Diagnosis & Therapy.  26 (2022)  5 - p. 551-560 , 2022
Link: https://doi.org/10.1007/..
 
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8

DNASE1L3 deficiency, new phenotypes, and evidence for a tra..:

Tusseau, Maud ; Lovšin, Ema ; Samaille, Charlotte...
Journal of Clinical Immunology.  42 (2022)  6 - p. 1310-1320 , 2022
Link: https://doi.org/10.1007/..
 
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9

Short QT interval as a harbinger of an arrhythmogenic cardi..:

Chevalier, Philippe ; Moreau, Adrien ; Richard, Sylvain...
HeartRhythm Case Reports.  7 (2021)  11 - p. 734-738 , 2021
Link: https://doi.org/10.1016/..
 
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10

Molecular Diagnosis of Inherited Cardiac Diseases in the Er..:

Janin, Alexandre ; Januel, Louis ; Cazeneuve, Cécile...
Molecular Diagnosis & Therapy.  25 (2021)  3 - p. 373-385 , 2021
Link: https://doi.org/10.1007/..
 
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11

Deciphering DSC2 arrhythmogenic cardiomyopathy electrical i..:

Moreau, Adrien ; Reisqs, Jean‐Baptiste ; Delanoe‐Ayari, Helene...
Clinical and Translational Medicine.  11 (2021)  3 - p. , 2021
Link: https://doi.org/10.1002/..
 
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12

Characterization of Loss-Of-Function KCNJ2 Mutations in Aty..:

Le Tanno, Pauline ; Folacci, Mathilde ; Revilloud, Jean...
Frontiers in Genetics.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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13

Development of a new expanded next‐generation sequencing pa..:

Marmontel, Oriane ; Rollat‐Farnier, Pierre Antoine ; Wozny, Anne‐Sophie...
Clinical Genetics.  98 (2020)  6 - p. 589-594 , 2020
Link: https://doi.org/10.1111/..
 
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14

PCSK9 post-transcriptional regulation: Role of a 3′UTR micr..:

Decourt, Charlotte ; Janin, Alexandre ; Moindrot, Marine...
Atherosclerosis.  314 (2020)  - p. 63-70 , 2020
Link: https://doi.org/10.1016/..
 
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15

Tsunamigenic potential of a Holocene submarine landslide al..:

Janin, Alexandre ; Rodriguez, Mathieu ; Sakellariou, Dimitris..
Natural Hazards and Earth System Sciences.  19 (2019)  1 - p. 121-136 , 2019
Link: https://doi.org/10.5194/..
 
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