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Oktober 2020 / J Genet Genomics Phosphatidylinositol 4 kinase-β mutations cause non-syndromic sensorineural deafness and inner ear malformation X. Su Y. Feng S.A. Rahman S. Wu G. Li F. Rüschendorf L. Zhao H. Cui J. Liang L. Fang H. Hu S. Froehler Y. Yu G. Patone O. Hummel Q. Chen K. Raile F.C. Luft S. Bähring K. Hussain W. Chen J. Zhang M. Gong 01. Januar 2001 / J Med Genet Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26 R. Bayoumi K. Saar Y.A. Lee G. Nuernberg A. Reis M. Nur-E-Kamal L.I. Al Gazali 23. November 2001 / Circ Res The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system M.L. Bang T. Centner F. Fornoff A.J. Geach M. Gotthardt M. McNabb C.C. Witt D. Labeit C.C. Gregorio H. Granzier S. Labeit 11. September 2009 / Circ Res Truncation of titin's elastic PEVK region leads to cardiomyopathy with diastolic dysfunction H.L. Granzier M.H. Radke J. Peng D. Westermann O.L. Nelson K. Rost N.M. King Q. Yu C. Tschoepe M. McNabb D.F. Larson S. Labeit M. Gotthardt 16. Oktober 2009 / J Mol Biol Altered contractility of skeletal muscle in mice deficient in titin's M-band region C.A. Ottenheijm C. Hidalgo K. Rost M. Gotthardt H. Granzier 01. Dezember 2009 / Circ Cardiovasc Genet Association of AHSG gene polymorphisms with fetuin-A plasma levels and cardiovascular diseases in the EPIC-Potsdam study E. Fisher N. Stefan K. Saar D. Drogan M.B. Schulze A. Fritsche H.G. Joost H.U. Haering N. Huebner H. Boeing C. Weikert 01. Mai 2009 / J Hypertens A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany* K. Hoffmann C. Planitz F. Rueschendorf B. Mueller-Myhsok H.H. Stassen B. Lucke M. Mattheisen M. Stumvoll R. Bochmann M. Zschornack T.F. Wienker P. Nuernberg A. Reis F.C. Luft T.H. Lindner 01. Mai 2009 / J Clin Invest Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation K. Huck O. Feyen T. Niehues F. Rueschendorf N. Huebner H.J. Laws T. Telieps S. Knapp H.H. Wacker A. Meindl H. Jumaa A. Borkhardt 01. September 2009 / J Mol Med CAR-diology - a virus receptor in the healthy and diseased heart R. Fischer W. Poller H.P. Schultheiss M. Gotthardt 01. Juli 2009 / Nat Genet RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection M. Henneke S. Diekmann A. Ohlenbusch J. Kaiser V. Engelbrecht A. Kohlschuetter R. Kraetzner M. Madruga-Garrido M. Mayer L. Opitz D. Rodriguez F. Rueschendorf J. Schumacher H. Thiele S. Thoms R. Steinfeld P. Nuernberg J. Gaertner Seitennummerierung Aktuelle Seite 1 Seite 2 Seite 3 Seite 4 … Nächste Seite Next › Letzte Seite Last »
28. Oktober 2020 / J Genet Genomics Phosphatidylinositol 4 kinase-β mutations cause non-syndromic sensorineural deafness and inner ear malformation X. Su Y. Feng S.A. Rahman S. Wu G. Li F. Rüschendorf L. Zhao H. Cui J. Liang L. Fang H. Hu S. Froehler Y. Yu G. Patone O. Hummel Q. Chen K. Raile F.C. Luft S. Bähring K. Hussain W. Chen J. Zhang M. Gong
01. Januar 2001 / J Med Genet Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26 R. Bayoumi K. Saar Y.A. Lee G. Nuernberg A. Reis M. Nur-E-Kamal L.I. Al Gazali
23. November 2001 / Circ Res The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system M.L. Bang T. Centner F. Fornoff A.J. Geach M. Gotthardt M. McNabb C.C. Witt D. Labeit C.C. Gregorio H. Granzier S. Labeit
11. September 2009 / Circ Res Truncation of titin's elastic PEVK region leads to cardiomyopathy with diastolic dysfunction H.L. Granzier M.H. Radke J. Peng D. Westermann O.L. Nelson K. Rost N.M. King Q. Yu C. Tschoepe M. McNabb D.F. Larson S. Labeit M. Gotthardt
16. Oktober 2009 / J Mol Biol Altered contractility of skeletal muscle in mice deficient in titin's M-band region C.A. Ottenheijm C. Hidalgo K. Rost M. Gotthardt H. Granzier
01. Dezember 2009 / Circ Cardiovasc Genet Association of AHSG gene polymorphisms with fetuin-A plasma levels and cardiovascular diseases in the EPIC-Potsdam study E. Fisher N. Stefan K. Saar D. Drogan M.B. Schulze A. Fritsche H.G. Joost H.U. Haering N. Huebner H. Boeing C. Weikert
01. Mai 2009 / J Hypertens A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany* K. Hoffmann C. Planitz F. Rueschendorf B. Mueller-Myhsok H.H. Stassen B. Lucke M. Mattheisen M. Stumvoll R. Bochmann M. Zschornack T.F. Wienker P. Nuernberg A. Reis F.C. Luft T.H. Lindner
01. Mai 2009 / J Clin Invest Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation K. Huck O. Feyen T. Niehues F. Rueschendorf N. Huebner H.J. Laws T. Telieps S. Knapp H.H. Wacker A. Meindl H. Jumaa A. Borkhardt
01. September 2009 / J Mol Med CAR-diology - a virus receptor in the healthy and diseased heart R. Fischer W. Poller H.P. Schultheiss M. Gotthardt
01. Juli 2009 / Nat Genet RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection M. Henneke S. Diekmann A. Ohlenbusch J. Kaiser V. Engelbrecht A. Kohlschuetter R. Kraetzner M. Madruga-Garrido M. Mayer L. Opitz D. Rodriguez F. Rueschendorf J. Schumacher H. Thiele S. Thoms R. Steinfeld P. Nuernberg J. Gaertner