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Search Results - Eymard-Pierre, E.
Search Results - Eymard-Pierre, E.
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Whole exome sequencing in patients with inherited white matter disorders
by
Dorboz, I
,
Renaldo, F
,
Boussaid, K
,
Samaan, S
,
Tonduti, D
,
Eymard-Pierre, E
,
Elmaleh, M
,
Rodriguez, D
,
Boespflug-Tanguy, O
Published in
European journal of paediatric neurology
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Prenatal diagnosis of a rare de novo centromeric chromosome 6 variant
by
Goumy, C.
,
Kemeny, S.
,
Eymard-Pierre, E.
,
Richard, C.
,
Gouas, L.
,
Combes, P.
,
Gay-Bellile, M.
,
Gallot, D.
,
Tchirkov, A.
,
Vago, P.
Published in
Gene
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Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene
by
Eymard-Pierre, Eleonore
,
Lesca, Gaetan
,
Dollet, Sandra
,
Santorelli, Filippo Maria
,
di Capua, Matteo
,
Bertini, Enrico
,
Boespflug-Tanguy, Odile
Published in
American journal of human genetics
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Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations
by
Fogli, Anne
,
Rodriguez, Diana
,
Eymard-Pierre, Eléonore
,
Bouhour, Françoise
,
Labauge, Pierre
,
Meaney, Brandon F.
,
Zeesman, Susan
,
Kaneski, Christine R.
,
Schiffmann, Raphael
,
Boespflug-Tanguy, Odile
Published in
American journal of human genetics
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Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus
by
Fogli, Anne
,
Wong, Kondi
,
Eymard-Pierre, Eleonore
,
Wenger, Jack
,
Bouffard, John-Paul
,
Goldin, Ehud
,
Black, Deborah N.
,
Boespflug-Tanguy, Odile
,
Schiffmann, Raphael
Published in
Annals of neurology
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Unstable Mutants in the Peripheral Endosomal Membrane Component ALS2 Cause Early-Onset Motor Neuron Disease
by
Yamanaka, Koji
,
Velde, Christine Vande
,
Eymard-Pierre, Eleonore
,
Bertini, Enrico
,
Boespflug-Tanguy, Odile
,
Cleveland, Don W.
Published in
Proceedings of the National Academy of Sciences - PNAS
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P-443 Evaluation of the effects of a semi-automated vitrification performed before or after in vitro maturation (IVM) on the kinetic of oocyte maturation and chromosome segregation...
by
Marteil, G
,
Chaput, L
,
Dollet, S
,
Pereira, B
,
Eymard-Pierre, E
,
Fiot, M
,
Gouhier, C
,
Grémeau, A.S
,
Chauffour, C
,
Tchirkov, A
,
Brugnon, F
Published in
Human reproduction (Oxford)
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Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities
by
Goumy, Carole
,
Gouas, Laetitia
,
Pebrel-Richard, Céline
,
Véronèse, Lauren
,
Eymard-Pierre, Eleonore
,
Debost-Legrand, Anne
,
Haoud, Khadidja
,
Tchirkov, Andrei
,
Vago, Philippe
Published in
Genetics in medicine
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Derivations from L1(G) into L1(G) and L∞(G)
by
Johnson, B. E.
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