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Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene
L. Faivre
,
Clothilde Esteve
,
L. Francescatto
,
P. L. Tan
,
A. Bourchany
et al.
European Journal of Human Genetics, 2019, 27 (1), pp.795-796
Article dans une revue
hal-02461437v1
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Etude de l''évolution physico-chimique et microbiologique du lisier de porcs pendant le stockage anaérobie
Jérôme Rivière
,
J.C. Subtil
,
Gérard Catroux
Annales Agronomiques, 1974, 25 (2), pp.383-401
Article dans une revue
hal-02732176v1
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782 Detection of mosaic copy-number variation from whole-exome sequencing in mosaic cutaneous disorders using XHMM and custom SNP approach
A. Sorlin
,
Tisserant .
,
J. Thevenon
,
V. Carmignac
,
Y. Duffourd
et al.
Communication dans un congrès
hal-01926293v1
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616 Postzygotic mutations of RHOA cause a mosaic neuroectodermal syndrome
P. Vabres
,
A. Sorlin
,
S.S. Kholmanskikh
,
B. Demeer
,
J. St-Onge
et al.
47th Annual Meeting of the European-Society-for-Dermatological-Research (ESDR), Sep 2017, Salzburg, Australia. pp.S298, ⟨10.1016/j.jid.2017.07.292⟩
Communication dans un congrès
hal-01663763v1
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783 Molecular diagnosis of mosaic skin development disorders using next generation sequencing
V. Carmignac
,
P. Kuentz
,
A. Sorlin
,
M. Chevarin
,
T. Jouan
et al.
Communication dans un congrès
hal-01926278v1
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794 Postzygotic dominant-negative mutations of RHOA cause a mosaic neuroectodermal syndrome
P. Vabres
,
A. Sorlin
,
S. Kholmanskikh
,
Y. Duffourd
,
P. Kuentz
et al.
Communication dans un congrès
hal-01926312v1
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