American Journal of Human Genetics

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12.01.2026

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies

Authors Di Donato N; NMA Consortium; Thom A, Rump A, Greve JN, Cadiñanos J, Calabro S, Cathey S, Chung B, Cope H, Costales M, Cuvertino S, Dinkel P, Erripi K, Fry AE, Garavelli L, Hoffjan S, Janzarik WG, Kreimer I, Mancini G, Marin-Reina P, Meinhardt A, Niehaus I, Pilz D,
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20.06.2023

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans

Authors Guo L, Salian S, Xue JY, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, Clayton-Smith J, Wang J, Wang Z, Banka S, Jackson A, Zhang YM, Wei ZJ, Hüning I, Brunet T, Ohashi H, Thomas MF, Bupp C, Miyake N, Matsumoto N, Mendoza-Londono
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03.10.2019

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

Authors Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li
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