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[DICER1 constitutional pathogenic variant syndrome: Where are we in 2019?] [electronic resource] by
- Réguerre, Yves
- Golmard, Lisa
- Brisse, Hervé J
- Oliver Petit, Isabelle
- Savagner, Frédérique
- Boudjemaa, Sabah
- Gauthier-Villars, Marion
- Rod, Julien
- Fresneau, Brice
- Orbach, Daniel
Producer: 20191212
In:
Bulletin du cancer vol. 106
Availability: No items available.
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Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients. [electronic resource] by
- Cohen, Enzo
- Maghnie, Mohamad
- Collot, Nathalie
- Leger, Juliane
- Dastot, Florence
- Polak, Michel
- Rose, Sophie
- Touraine, Philippe
- Duquesnoy, Philippe
- Tauber, Maïté
- Copin, Bruno
- Bertrand, Anne-Marie
- Brioude, Frederic
- Larizza, Daniela
- Edouard, Thomas
- González Briceño, Laura
- Netchine, Irène
- Oliver-Petit, Isabelle
- Sobrier, Marie-Laure
- Amselem, Serge
- Legendre, Marie
Producer: 20170620
In:
The Journal of clinical endocrinology and metabolism vol. 102
Availability: No items available.
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5.
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ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors. [electronic resource] by
- Uro-Coste, Emmanuelle
- Masliah-Planchon, Julien
- Siegfried, Aurore
- Blanluet, Maud
- Lambo, Sander
- Kool, Marcel
- Roujeau, Thomas
- Boetto, Sergio
- Palenzuela, Gilles
- Bertozzi, Anne-Isabelle
- Gambart, Marion
- Coupier, Isabelle
- Oliver-Petit, Isabelle
- Golmard, Lisa
- Julia, Sophie
- Savagner, Fréderique
- Mohand-Oumoussa, Badreddine
- Tauziede-Espariat, Arnault
- Delisle, Marie-Bernadette
- Figarella-Branger, Dominique
- Bourdeaut, Franck
- Rigau, Valérie
Producer: 20200327
In:
Acta neuropathologica vol. 137
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Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome. [electronic resource] by
- Geoffron, Sophie
- Abi Habib, Walid
- Chantot-Bastaraud, Sandra
- Dubern, Béatrice
- Steunou, Virginie
- Azzi, Salah
- Afenjar, Alexandra
- Busa, Tiffanny
- Pinheiro Canton, Ana
- Chalouhi, Christel
- Dufourg, Marie-Noëlle
- Esteva, Blandine
- Fradin, Mélanie
- Geneviève, David
- Heide, Solveig
- Isidor, Bertrand
- Linglart, Agnès
- Morice Picard, Fanny
- Naud-Saudreau, Catherine
- Oliver Petit, Isabelle
- Philip, Nicole
- Pienkowski, Catherine
- Rio, Marlène
- Rossignol, Sylvie
- Tauber, Maithé
- Thevenon, Julien
- Vu-Hong, Thuy-Ai
- Harbison, Madeleine D
- Salem, Jennifer
- Brioude, Frédéric
- Netchine, Irène
- Giabicani, Eloïse
Producer: 20190104
In:
The Journal of clinical endocrinology and metabolism vol. 103
Availability: No items available.
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7.
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Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial. [electronic resource] by
- Groeneweg, Stefan
- Peeters, Robin P
- Moran, Carla
- Stoupa, Athanasia
- Auriol, Françoise
- Tonduti, Davide
- Dica, Alice
- Paone, Laura
- Rozenkova, Klara
- Malikova, Jana
- van der Walt, Adri
- de Coo, Irenaeus F M
- McGowan, Anne
- Lyons, Greta
- Aarsen, Femke K
- Barca, Diana
- van Beynum, Ingrid M
- van der Knoop, Marieke M
- Jansen, Jurgen
- Manshande, Martien
- Lunsing, Roelineke J
- Nowak, Stan
- den Uil, Corstiaan A
- Zillikens, M Carola
- Visser, Frank E
- Vrijmoeth, Paul
- de Wit, Marie Claire Y
- Wolf, Nicole I
- Zandstra, Angelique
- Ambegaonkar, Gautam
- Singh, Yogen
- de Rijke, Yolanda B
- Medici, Marco
- Bertini, Enrico S
- Depoorter, Sylvia
- Lebl, Jan
- Cappa, Marco
- De Meirleir, Linda
- Krude, Heiko
- Craiu, Dana
- Zibordi, Federica
- Oliver Petit, Isabelle
- Polak, Michel
- Chatterjee, Krishna
- Visser, Theo J
- Visser, W Edward
Producer: 20200526
In:
The lancet. Diabetes & endocrinology vol. 7
Availability: No items available.
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