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Springer Nature5
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Human Genetics5
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20182
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Maria Bitner-Glindzicz results 5 · Newest (Page 1/1, per page 25)
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Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementNARA Subscribed
Human Genetics · 2018 · Vol. 137 · Issue 3 · Springer
Lisbeth Tranebjærg; Nicola Strenzke; Sture Lindholm; Nanna D. Rendtorff; Hanne Poulsen; Himanshu Khandelia; Wojciech Kopec; Troels J. Brünnich Lyngbye; Christian Hamel; Cecile Delettre; Beatrice Bocquet; Michael Bille; Hanne H. Owen; Toke Bek; Hanne Jensen; Karen Østergaard; Claes Möller; Linda Luxon; Lucinda Carr; Louise Wilson; Kaukab Rajput; Tony Sirimanna; Katherine Harrop-Griffiths; Shamima Rahman; Barbara Vona; Julia Doll; Thomas Haaf; Oliver Bartsch; Hendrik Rosewich; Tobias Moser; Maria Bitner-Glindzicz
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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementNARA Subscribed
Human Genetics · 2018 · Vol. 137 · Issue 2 · Springer
Lisbeth Tranebjærg; Nicola Strenzke; Sture Lindholm; Nanna D. Rendtorff; Hanne Poulsen; Himanshu Khandelia; Wojciech Kopec; Troels J. Brünnich Lyngbye; Christian Hamel; Cecile Delettre; Beatrice Bocquet; Michael Bille; Hanne H. Owen; Toke Bek; Hanne Jensen; Karen Østergaard; Claes Möller; Linda Luxon; Lucinda Carr; Louise Wilson; Kaukab Rajput; Tony Sirimanna; Katherine Harrop-Griffiths; Shamima Rahman; Barbara Vona; Julia Doll; Thomas Haaf; Oliver Bartsch; Hendrik Rosewich; Tobias Moser; Maria Bitner-Glindzicz
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Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1 : molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cMNARA Subscribed
Human Genetics · 2001 · Vol. 108 · Issue 5 · Springer
Sarah Rickard; William van't Hoff; Angela Barnicoat; Isabelle Russell-Eggitt; Robin Winter; Maria Bitner-Glindzicz; Michael Parker
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Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-NielsenNARA Subscribed
Human Genetics · 2001 · Vol. 108 · Issue 1 · Springer
Lisbeth Tranebj�rg; Meriel McEntagart; Lars Larsen; Margo Whiteford; Marcus Pembrey; Sue Malcolm; Maria Bitner-Glindzicz; Michael Christiansen; Bj�rn Aslaksen; Svein S�rland; Jessica Tyson; Ole Lund; J�rn Bathen
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Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-NielsenNARA Subscribed
Human Genetics · 2000 · Vol. 107 · Issue 5 · Springer
Jessica Tyson; Lisbeth Tranebjærg; Meriel McEntagart; Lars Larsen; Michael Christiansen; Margo Whiteford; Jørn Bathen; Bjørn Aslaksen; Svein Sørland; Ole Lund; Marcus Pembrey; Sue Malcolm; Maria Bitner-Glindzicz
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