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RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
Am J Hum Genet. 2019 Nov 7;105(5):1040-1047. doi: 10.1016/j.ajhg.2019.09.024. Epub 2019 Oct 17.
Am J Hum Genet. 2019.
PMID: 31630789
Free PMC article.
ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.
Nizon M, Küry S, Péréon Y, Besnard T, Quinquis D, Boisseau P, Marsaud T, Magot A, Mussini JM, Mayrargue E, Barbarot S, Bézieau S, Isidor B.
Nizon M, et al. Among authors: mayrargue e.
Clin Genet. 2018 Jan;93(1):169-172. doi: 10.1111/cge.13048. Epub 2017 Aug 31.
Clin Genet. 2018.
PMID: 28471035
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Whole-body MR imaging in suspected physical child abuse: comparison with skeletal survey and bone scintigraphy findings from the PEDIMA prospective multicentre study.
Proisy M, Vivier PH, Morel B, Bruneau B, Sembely-Taveau C, Vacheresse S, Devillers A, Lecloirec J, Bodet-Milin C, Dubois M, Hamonic S, Bajeux E, Ganivet A, Adamsbaum C, Treguier C; PEDIMA study research group.
Proisy M, et al.
Eur Radiol. 2021 Nov;31(11):8069-8080. doi: 10.1007/s00330-021-07896-9. Epub 2021 Apr 29.
Eur Radiol. 2021.
PMID: 33912993
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Follow-up study of severe slipped capital femoral epiphysis treated with Dunn's osteotomy.
Fron D, Forgues D, Mayrargue E, Halimi P, Herbaux B.
Fron D, et al. Among authors: mayrargue e.
J Pediatr Orthop. 2000 May-Jun;20(3):320-5.
J Pediatr Orthop. 2000.
PMID: 10823598
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Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations.
Holder-Espinasse M, Escande F, Mayrargue E, Dieux-Coeslier A, Fron D, Doual-Bisser A, Boute-Benejean O, Robert Y, Porchet N, Manouvrier-Hanu S.
Holder-Espinasse M, et al. Among authors: mayrargue e.
J Med Genet. 2004 Jun;41(6):e78. doi: 10.1136/jmg.2003.013904.
J Med Genet. 2004.
PMID: 15173244
Free PMC article.
No abstract available.
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Functional and radiological outcome of subtalar arthroereisis for flexible pes planovalgus in children: A retrospective analysis.
Le Gall C, Lakhal W, Mayrargue E, Fraisse B, Marleix S, Lucas G, Losson A, Fréger N, Violas P.
Le Gall C, et al. Among authors: mayrargue e.
Orthop Traumatol Surg Res. 2022 Nov 23:103488. doi: 10.1016/j.otsr.2022.103488. Online ahead of print.
Orthop Traumatol Surg Res. 2022.
PMID: 36435370
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