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Author/Creator Héron, D.

1. A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. Issue 1 (December 2016)

Authors:
Sabry, S.; Vuillaumier-Barrot, S.; Mintet, E.; Fasseu, M.; Valayannopoulos, V.; Héron, D.; Dorison, N.; Mignot, C.; Seta, N.; Chantret, I.; Dupré, T.; Moore, S.
Journal:
Orphanet journal of rare diseases
Issue:
Volume 11:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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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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3. Deciphering the natural history of SCA7 in children. (23rd July 2020)

Authors:
Bah, M. G.; Rodriguez, D.; Cazeneuve, C.; Mochel, F.; Devos, D.; Suppiej, A.; Roubertie, A.; Meunier, I.; Gitiaux, C.; Curie, A.; Klapczynski, F.; Allani‐Essid, N.; Carneiro, M.; Van Minkelen, R.; Kievit, A.; Fluss, J.; Leheup, B.; Ratbi, L.; Héron, D.; Gras, D.
Journal:
European journal of neurology
Issue:
Volume 27:Number 11(2020)
Page Start:
2267
Record Type:
Journal Article
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5. Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions. (3rd May 2021)

Authors:
Maurice, P.; Guilbaud, L.; Garel, J.; Mine, M.; Dugas, A.; Friszer, S.; Maisonneuve, E.; Moutard, M.‐L.; Coste, T.; Héron, D.; Tournier‐Lasserve, E.; Garel, C.; Jouannic, J.‐M.
Journal:
Ultrasound in obstetrics & gynecology
Issue:
Volume 57:Number 5(2021)
Page Start:
783
Record Type:
Journal Article
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6. Unprecedented Observations of a Nascent In Situ Cirrus in the Tropical Tropopause Layer. Issue 4 (11th February 2021)

Authors:
Reinares Martínez, I.; Evan, S.; Wienhold, F. G.; Brioude, J.; Jensen, E. J.; Thornberry, T. D.; Héron, D.; Verreyken, B.; Körner, S.; Vömel, H.; Metzger, J.‐M.; Posny, F.
Journal:
Geophysical research letters
Issue:
Volume 48:Issue 4(2021)
Page Start:
n/a
Record Type:
Journal Article
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