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1 . Academic Journal
Dépistage génétique néonatal : à propos du programme pilote sur l’amyotrophie spinale (DEPISMA)
저자
by
Lacombe, Didier
;
Calmels, Nadège
;
Andre, Carole
;
Reboul, Marie-Pierre
;
Biancalana, Valérie
, et al.
소스
In
Bulletin de l'Académie Nationale de Médecine
January 2024 208(1):86-94
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7 . Academic Journal
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management
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by
Wicker, Camille
;
Roux, Charles-Joris
;
Goujon, Louise
;
de Feraudy, Yvan
;
Hully, Marie
, et al.
소스
In
Molecular Genetics and Metabolism
November 2023 140(3)
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7 . Academic Journal
The Rogdi knockout mouse is a model for Kohlschütter–Tönz syndrome.
저자
by
Jimenez-Armijo, Alexandra
;
Morkmued, Supawich
;
Ahumada, José Tomás
;
Kharouf, Naji
;
de Feraudy, Yvan
, et al.
소스
Scientific Reports
. 1/3/2024, Vol. 13 Issue 1, p1-18. 18p.
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7 . Academic Journal
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
저자
by
Labasse, Clémence
;
Brochier, Guy
;
Taratuto, Ana-Lia
;
Cadot, Bruno
;
Rendu, John
, et al.
소스
Acta Neuropathologica Communications
. 7/9/2022, Vol. 10 Issue 1, p1-19. 19p.
Open Access (BioMed Central)
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7 . Periodical
Intérêts et limites de l’électroneuromyographie chez les enfants : étude de 137 cas
저자
by
de Feraudy, Yvan
;
Nadaj-Pakleza, Aleksandra
;
Vincent, Laugel
;
Chanson, Jean-Baptiste
.
소스
Revue Neurologique; April 2023, Vol. 179 Issue: 1, Number 1 Supplement 1 pS75-S76, 2p
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6 . Academic Journal
Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy
저자
by
de Feraudy, Yvan
;
Ben Yaou, Rabah
;
Wahbi, Karim
;
Stalens, Caroline
;
Stantzou, Amalia
, et al.
소스
ANNALS OF NEUROLOGY
; NOV 24 2020, 13p.
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7 . Periodical
Dépistage génétique néonatal : à propos du programme pilote sur l’amyotrophie spinale (DEPISMA)
저자
by
Lacombe, Didier
;
Calmels, Nadège
;
Andre, Carole
;
Reboul, Marie-Pierre
;
Biancalana, Valérie
, et al.
소스
Bulletin de l'Académie Nationale de Médecine; 20230101, Issue: Preprints
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Full Text (ScienceDirect O/A)
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7 .
Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy
저자
by
de Feraudy, Yvan
;
Ben Yaou, Rabah
;
Wahbi, Karim
;
Stalens, Caroline
;
Stantzou, Amalia
, et al.
소스
Annals of Neurology
Annals of Neurology, 2021, 89 (2), pp.280-292. ⟨10.1002/ana.25951⟩
Annals of Neurology, Wiley, 2021, 89 (2), pp.280-292. ⟨10.1002/ana.25951⟩
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7 .
Clinical impact of residual dystrophin in immunohistochemistry in patients with mutations of DMD
저자
by
de Féraudy, Yvan
;
Université Paris Descartes - Faculté de Médecine (UPD5 Médecine)
;
Université Paris Descartes - Paris 5 (UPD5)
;
Helge Amthor
.
소스
Médecine humaine et pathologie. 2019
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6 . Academic Journal
miR-141 and miR-200a act on ovarian tumorigenesis by controlling oxidative stress response.
저자
by
Mateescu, Bogdan
;
Batista, Luciana
;
Cardon, Melissa
;
Gruosso, Tina
;
de Feraudy, Yvan
, et al.
소스
Nature Medicine
. Dec2011, Vol. 17 Issue 12, p1627-1635. 9p. 1 Chart, 5 Graphs.
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