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How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome. [electronic resource] by
- Schwartz, Mathias
- Sternberg, Damien
- Whalen, Sandra
- Afenjar, Alexandra
- Isapof, Arnaud
- Chabrol, Brigitte
- Portnoï, Marie-France
- Heide, Solveig
- Keren, Boris
- Chantot-Bastaraud, Sandra
- Siffroi, Jean-Pierre
Producer: 20180621
In:
American journal of medical genetics. Part A vol. 176
Availability: No items available.
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Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers. [electronic resource] by
- Rouen, Alexandre
- Carlier, Léa
- Heide, Solveig
- Egloff, Matthieu
- Marzin, Pauline
- Ader, Flavie
- Schwartz, Mathias
- Rogers, Eli
- Joyé, Nicole
- Balet, Richard
- Lédée, Nathalie
- Prat-Ellenberg, Laura
- Cassuto, Nino Guy
- Siffroi, Jean-Pierre
Producer: 20180710
In:
Reproductive biomedicine online vol. 35
Availability: No items available.
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Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort. [electronic resource] by
- Schwartz, Mathias
- Korenbaum, Clement
- Benfoda, Meriem
- Mary, Mickael
- Colas, Chrystelle
- Coulet, Florence
- Parrin, Melissa
- Jonveaux, Philippe
- Ingster, Olivier
- Granier, Sandra
- De Mestier, Louis
- Cros, Jerome
- Riffault, Angelique
- Muller, Marie
- Levy, Philippe
- Rebours, Vinciane
- Greenhalf, William
- Soufir, Nadem
- Hammel, Pascal
Producer: 20200831
In:
Clinical genetics vol. 96
Availability: No items available.
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Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes. [electronic resource] by
- Baert-Desurmont, Stéphanie
- Coutant, Sophie
- Charbonnier, Françoise
- Macquere, Pierre
- Lecoquierre, François
- Schwartz, Mathias
- Blanluet, Maud
- Vezain, Myriam
- Lanos, Raphaël
- Quenez, Olivier
- Bou, Jacqueline
- Bouvignies, Emilie
- Fourneaux, Steeve
- Manase, Sandrine
- Vasseur, Stéphanie
- Mauillon, Jacques
- Gerard, Marion
- Marlin, Régine
- Bougeard, Gaëlle
- Tinat, Julie
- Frebourg, Thierry
- Tournier, Isabelle
Producer: 20190315
In:
European journal of human genetics : EJHG vol. 26
Availability: No items available.
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