An α-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21

By Mustapha M.  

Human Molecular Genetics, Vol. 8, Iss. 3, 1999-03 ,pp. : 409-412

Oxford University Press

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Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

By Çalşkan Minal   Chong Jessica X.   Uricchio Lawrence   Anderson Rebecca   Chen Peixian   Sougnez Carrie   Garimella Kiran   Gabriel Stacey B.   DePristo Mark A.   Shakir Khalid   Matern Dietrich   Das Soma   Waggoner Darrel   Nicolae Dan L.   Ober Carole  

Human Molecular Genetics, Vol. 20, Iss. 7, 2011-04 ,pp. : 1285-1289

Oxford University Press

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Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

By Balkany T.  

Human Molecular Genetics, Vol. 10, Iss. 25, 2001-12 ,pp. : 2945-2951

Oxford University Press

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Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans

By Zelante Leopoldo   Gasparini Paolo   Estivill Xavier  

Human Molecular Genetics, Vol. 6, Iss. 9, 1997-01 ,pp. : 1605-1609

Oxford University Press

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Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP

By Ropers Fabienne   Derivery Emmanuel   Hu Hao   Garshasbi Masoud   Karbasiyan Mohsen   Herold Martin   Nürnberg Gudrun   Ullmann Reinhard   Gautreau Alexis   Sperling Karl   Varon Raymonda   Rajab Anna  

Human Molecular Genetics, Vol. 20, Iss. 13, 2011-07 ,pp. : 2585-2590

Oxford University Press

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