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Author/Creator Wiedemann, Arnaud

1. A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever. Issue 12 (4th October 2021)

Authors:
Ravel, Jean‐Marie; Dreumont, Natacha; Mosca, Pauline; Smith, Desiree E. C.; Mendes, Marisa I.; Wiedemann, Arnaud; Coelho, David; Schmitt, Emmanuelle; Rivière, Jean‐Baptiste; Tran Mau‐Them, Frédéric; Thevenon, Julien; Kuentz, Paul; Polivka, Marc; Fuchs, Sabine A.; Kok, Gautam; Thauvin‐Robinet, Chr...
Journal:
Human mutation
Issue:
Volume 42:Issue 12(2021)
Page Start:
1576
Record Type:
Journal Article
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2. Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect. Issue 2 (28th September 2020)

Authors:
Bérat, Claire‐Marine; Montealegre, Sebastian; Wiedemann, Arnaud; Nuzum, Malou Le Corronc; Blondel, Amélie; Debruge, Hugo; Cano, Aline; Chabrol, Brigitte; Hoebeke, Célia; Polak, Michel; Stoupa, Athanasia; Feillet, François; Torre, Stéphanie; Boddaert, Nathalie; Bruel, Henri; Barth, Magalie; Damaj,...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 2(2021)
Page Start:
415
Record Type:
Journal Article
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3. Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications. Issue 2 (21st December 2020)

Authors:
Castiglioni, Claudia; Feillet, François; Barnerias, Christine; Wiedemann, Arnaud; Muchart, Jordi; Cortes, Fanny; Hernando‐Davalillo, Cristina; Montero, Raquel; Dupré, Thierry; Bruneel, Arnaud; Seta, Nathalie; Vuillaumier‐Barrot, Sandrine; Serrano, Mercedes
Journal:
Human mutation
Issue:
Volume 42:Issue 2(2021)
Page Start:
142
Record Type:
Journal Article
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4. Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications. Issue 2 (21st December 2020)

Authors:
Castiglioni, Claudia; Feillet, François; Barnerias, Christine; Wiedemann, Arnaud; Muchart, Jordi; Cortes, Fanny; Hernando‐Davalillo, Cristina; Montero, Raquel; Dupré, Thierry; Bruneel, Arnaud; Seta, Nathalie; Vuillaumier‐Barrot, Sandrine; Serrano, Mercedes
Journal:
Human mutation
Issue:
Volume 42:Issue 2(2021)
Page Start:
142
Record Type:
Journal Article
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5. Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function. Issue 4 (14th January 2020)

Authors:
Rice, Gillian I.; Park, Sehoon; Gavazzi, Francesco; Adang, Laura A.; Ayuk, Loveline A.; Van Eyck, Lien; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Berg, Stefan; Billette de Villemeur, Thierry; Bley, Annette E.; Blumkin, Lubov; Boespflug‐Tanguy, Odile; Briggs, Tracy A.; ...
Journal:
Human mutation
Issue:
Volume 41:Issue 4(2020)
Page Start:
837
Record Type:
Journal Article
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6. Menstrual Toxic Shock Syndrome: A French Nationwide Multicenter Retrospective Study. (27th April 2021)

Authors:
Contou, Damien; Colin, Gwenhaël; Travert, Brendan; Jochmans, Sébastien; Conrad, Marie; Lascarrou, Jean-Baptiste; Painvin, Benoit; Ferré, Alexis; Schnell, David; La Combe, Beatrice; Coudroy, Rémi; Ehrmann, Stephan; Rambaud, Jérôme; Wiedemann, Arnaud; Asfar, Pierre; Kalfon, Pierre; Guérot, Emmanuel...
Journal:
Clinical infectious diseases
Issue:
Volume 74:Number 2(2022)
Page Start:
246
Record Type:
Journal Article
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7. Pubertal outcomes of children transplanted with allogeneic stem cells after myeloablative total body irradiation or busulfan: Influence of age and sex is confirmed, while a role of chronic graft‐versus‐host disease in delayed puberty onset is revealed. (23rd July 2020)

Authors:
Weinhard, Sara; Wiedemann, Arnaud; Leheup, Bruno; Dalle, Jean‐Hugues; Lebon Labich, Béatrice; Pochon, Cécile
Journal:
Pediatric transplantation
Issue:
Volume 24:Number 6(2020)
Page Start:
n/a
Record Type:
Journal Article
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8. Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?. (13th July 2017)

Authors:
Molin, Arnaud; Wiedemann, Arnaud; Demers, Nick; Kaufmann, Martin; Do Cao, Jérémy; Mainard, Laurent; Dousset, Brigitte; Journeau, Pierre; Abeguile, Geneviève; Coudray, Nadia; Mittre, Hervé; Richard, Nicolas; Weryha, Georges; Sorlin, Arthur; Jones, Glenville; Kottler, Marie‐Laure; Feillet, Francois
Journal:
Journal of bone and mineral research
Issue:
Volume 32:Number 9(2017:Sep.)
Page Start:
1893
Record Type:
Journal Article
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