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Author/Creator Huet, F.

1. Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis. Issue 2 (5th June 2016)

Authors:
Bruel, A.‐L.; Masurel‐Paulet, A.; Rivière, J.‐B.; Duffourd, Y.; Lehalle, D.; Bensignor, C.; Huet, F.; Borgnon, J.; Roucher, F.; Kuentz, P.; Deleuze, J.‐F.; Thauvin‐Robinet, C.; Faivre, L.; Thevenon, J.
Journal:
Clinical genetics
Issue:
Volume 91:Issue 2(2017)
Page Start:
333
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Issue 4 (27th November 2015)

Authors:
Avila, M.; Dyment, D.A.; Sagen, J.V.; St‐Onge, J.; Moog, U.; Chung, B.H.Y.; Mo, S.; Mansour, S.; Albanese, A.; Garcia, S.; Martin, D.O.; Lopez, A.A.; Claudi, T.; König, R.; White, S.M.; Sawyer, S.L.; Bernstein, J.A.; Slattery, L.; Jobling, R.K.; Yoon, G.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 4(2016)
Page Start:
501
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Clinical severity and molecular characteristics of circulating and emerging rotaviruses in young children attending hospital emergency departments in France. (August 2016)

Authors:
de Rougemont, A.; Kaplon, J.; Fremy, C.; Legrand-Guillien, M.-C.; Minoui-Tran, A.; Payan, C.; Vabret, A.; Mendes-Martins, L.; Chouchane, M.; Maudinas, R.; Huet, F.; Dubos, F.; Hober, D.; Lazrek, M.; Bouquignaud, C.; Decoster, A.; Alain, S.; Languepin, J.; Gillet, Y.; Lina, B.
Journal:
Clinical microbiology and infection
Issue:
Volume 22:Number 8(2016)
Page Start:
737.e9
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome. (21st April 2015)

Authors:
Bourchany, A.; Giurgea, I.; Thevenon, J.; Goldenberg, A.; Morin, G.; Bremond‐Gignac, D.; Paillot, C.; Lafontaine, P. O.; Thouvenin, D.; Massy, J.; Duncombe, A.; Thauvin‐Robinet, C.; Masurel‐Paulet, A.; Chehadeh, S. El; Huet, F.; Bron, A.; Creuzot‐Garcher, C.; Lyonnet, S.; Faivre, L.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 7(2015:Jul.)
Page Start:
1587
Record Type:
Journal Article
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8. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test. Issue 6 (26th April 2016)

Authors:
Thevenon, J.; Duffourd, Y.; Masurel‐Paulet, A.; Lefebvre, M.; Feillet, F.; El Chehadeh‐Djebbar, S.; St‐Onge, J.; Steinmetz, A.; Huet, F.; Chouchane, M.; Darmency‐Stamboul, V.; Callier, P.; Thauvin‐Robinet, C.; Faivre, L.; Rivière, J.B.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 6(2016)
Page Start:
700
Record Type:
Journal Article
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9. Evaluation of the effects on cutaneous sensitivity of a face emulsion containing sclareolide in women presenting with sensitive skin through quantitative sensory testing. (28th September 2021)

Authors:
Peres, M.; Huet, F.; Le Bonniec, M.; Guéhenneux, S.; Vié, K.; Misery, L.
Journal:
Journal of the European Academy of Dermatology and Venereology
Issue:
Volume 36:Number 1(2022)
Page Start:
e74
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗