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[An atypical case of lipoid proteinosis].
Grimaux X, Ayoubi RE, Rabin M, Martin L, Bonneau D, Bouyx F, Blanchard E, Croue A, Breton Q. Grimaux X, et al. Among authors: martin l. Ann Pathol. 2017 Oct;37(5):425-428. doi: 10.1016/j.annpat.2017.06.009. Epub 2017 Sep 19. Ann Pathol. 2017. PMID: 28935411 French.
Compound heterozygous mutations of the TNXB gene cause primary myopathy.
Pénisson-Besnier I, Allamand V, Beurrier P, Martin L, Schalkwijk J, van Vlijmen-Willems I, Gartioux C, Malfait F, Syx D, Macchi L, Marcorelles P, Arbeille B, Croué A, De Paepe A, Dubas F. Pénisson-Besnier I, et al. Among authors: martin l. Neuromuscul Disord. 2013 Aug;23(8):664-9. doi: 10.1016/j.nmd.2013.04.009. Epub 2013 Jun 12. Neuromuscul Disord. 2013. PMID: 23768946
Is ABCC6 a genuine mitochondrial protein?
Ferré M, Reynier P, Chevrollier A, Prunier-Mirebeau D, Lefthériotis G, Henrion D, Bonneau D, Procaccio V, Martin L. Ferré M, et al. Among authors: martin l. BMC Res Notes. 2013 Oct 23;6:427. doi: 10.1186/1756-0500-6-427. BMC Res Notes. 2013. PMID: 24152371 Free PMC article.
Dermatologic features of Smith-Magenis syndrome.
Guérin-Moreau M, Colin E, Nguyen S, Andrieux J, de Leersnyder H, Bonneau D, Martin L. Guérin-Moreau M, et al. Among authors: martin l. Pediatr Dermatol. 2015 May-Jun;32(3):337-41. doi: 10.1111/pde.12517. Epub 2015 Feb 12. Pediatr Dermatol. 2015. PMID: 25684097
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Ziegler A, Duclaux-Loras R, Revenu C, Charbit-Henrion F, Begue B, Duroure K, Grimaud L, Guihot AL, Desquiret-Dumas V, Zarhrate M, Cagnard N, Mas E, Breton A, Edouard T, Billon C, Frank M, Colin E, Lenaers G, Henrion D, Lyonnet S, Faivre L, Alembik Y, Philippe A, Moulin B, Reinstein E, Tzur S, Attali R, McGillivray G, White SM, Gallacher L, Kutsche K, Schneeberger P, Girisha KM, Nayak SS, Pais L, Maroofian R, Rad A, Vona B, Karimiani EG, Lekszas C, Haaf T, Martin L, Ruemmele F, Bonneau D, Cerf-Bensussan N, Del Bene F, Parlato M. Ziegler A, et al. Among authors: martin l. Am J Hum Genet. 2021 Jun 3;108(6):1126-1137. doi: 10.1016/j.ajhg.2021.04.020. Epub 2021 May 18. Am J Hum Genet. 2021. PMID: 34010604 Free PMC article.
Prevalence of shoulder calcification in pseudoxanthoma elasticum patients.
Hoppé E, Etienne M, Legrand E, Rutsch F, Leftheriotis G, Martin L. Hoppé E, et al. Among authors: martin l. Joint Bone Spine. 2018 Dec;85(6):777-778. doi: 10.1016/j.jbspin.2018.03.008. Epub 2018 Apr 6. Joint Bone Spine. 2018. PMID: 29631070 No abstract available.
7,650 results