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marcorelles p[au]
(187 results)?
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
J Med Genet. 2023 Feb;60(2):183-192. doi: 10.1136/jmedgenet-2021-107971. Epub 2022 Apr 7.
J Med Genet. 2023.
PMID: 35393335
Free PMC article.
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
Géraud J, Dieterich K, Rendu J, Uro Coste E, Dobrzynski M, Marcorelle P, Ioos C, Romero NB, Baudou E, Brocard J, Coville AC, Fauré J, Koenig M, Juntas Morales R, Lacène E, Madelaine A, Marty I, Pegeot H, Theze C, Siegfried A, Cossee M, Cances C.
Géraud J, et al. Among authors: marcorelle p.
J Med Genet. 2021 Sep;58(9):602-608. doi: 10.1136/jmedgenet-2019-106714. Epub 2020 Sep 29.
J Med Genet. 2021.
PMID: 32994279
Free PMC article.
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Biancalana V, Scheidecker S, Miguet M, Laquerrière A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Küsters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B, Laporte J.
Biancalana V, et al. Among authors: marcorelle p.
Acta Neuropathol. 2017 Dec;134(6):889-904. doi: 10.1007/s00401-017-1748-0. Epub 2017 Jul 6.
Acta Neuropathol. 2017.
PMID: 28685322
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High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonnière M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerrière A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attié-Bitach T.
Thomas S, et al. Among authors: marcorelle p.
Hum Mutat. 2010 Oct;31(10):1134-41. doi: 10.1002/humu.21329.
Hum Mutat. 2010.
PMID: 20690116
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Establishment of functional primary cultures of heart cells from the clam Ruditapes decussatus.
Hanana H, Talarmin H, Pennec JP, Droguet M, Gobin E, Marcorelle P, Dorange G.
Hanana H, et al. Among authors: marcorelle p.
Cytotechnology. 2011 May;63(3):295-305. doi: 10.1007/s10616-011-9347-8. Epub 2011 Mar 20.
Cytotechnology. 2011.
PMID: 21424582
Free PMC article.
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