Martin-Luther-Universität Halle-Wittenberg

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2008

Schwabe GC, Hoffmann K, Loges NK, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin J-L, Niggemann B, Omran H, Antonarakis SE, Bartoloni L.

Primary ciliary dyskinesia with normal axoneme ultrastructure caused by DNAH11 mutations. Hum Mutat 29: 289-298, 2008 [Abstract   ]


Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K.

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet 82: 464-476, 2008 [PDF   ]


Sanggaard KM, Kjaer KW, Eiberg H, Nuernberg G, Nuernberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjærg L.

A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. Am J of Med Genet 146A: 1017-1025, 2008 [Abstract   ]


Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nürnberg P, Mundlos S.
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. Am J Med Genet 146A: 965-976, 2008 [Abstract   ]


Türkmen S, Hoffmann K, Demirhan O, Aruoba D, Humphrey N, Mundlos S.

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. Eur J Hum Genet 16: 1070-1074, 2008 [PDF   ]

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