Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7

By  

Molecular Syndromology, Vol. 6, Iss. 2, 2015-01 ,pp. : 96-98

Karger

Access to resources Recommend Favorite

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

By Muller Jean   Stoetzel C.   Vincent M.   Leitch C.   Laurier V.   Danse J.   Hellé S.   Marion V.   Bennouna-Greene V.   Vicaire S.   Megarbane A.   Kaplan J.   Drouin-Garraud V.   Hamdani M.   Sigaudy S.   Francannet C.   Roume J.   Bitoun P.   Goldenberg A.   Philip N.   Odent S.   Green J.   Cossée M.   Davis E.   Katsanis N.   Bonneau D.   Verloes A.   Poch O.   Mandel J.   Dollfus H.  

Human Genetics, Vol. 127, Iss. 5, 2010-05 ,pp. : 583-593

Springer Publishing Company

Access to resources Recommend Favorite

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

By  

Molecular Syndromology, Vol. 1, Iss. 6, 2011-09 ,pp. : 273-281

Karger

Access to resources Recommend Favorite

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

By Zhang Qihong   Seo Seongjin   Bugge Kevin   Stone Edwin M.   Sheffield Val C.  

Human Molecular Genetics, Vol. 21, Iss. 9, 2012-05 ,pp. : 1945-1953

Oxford University Press

Access to resources Recommend Favorite

Mkks-null mice have a phenotype resembling Bardet–Biedl syndrome

By Fath Melissa A.  

Human Molecular Genetics, Vol. 14, Iss. 9, 2005-05 ,pp. : 1109-1118

Oxford University Press

Access to resources Recommend Favorite