Search Results

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment

• Authors : Smits, Jeroen J.; Oostrik, Jaap; Beynon, Andy J.

• Source: Smits , J J , Oostrik , J , Beynon , A J , Kant , S G , de Koning Gans , P A M , Rotteveel , L J C , Klein Wassink-Ruiter , J S , Free , R H , Maas , S M , van de Kamp , J , Merkus , P , Koole , W ,

Record details

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment

Subjects: POINT MUTATION; GENE; DEAFNESS

• Source: DOOFNL Consortium 2019 , ' De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment ' , HUMAN GENETICS , vol. 138 , no. 1 , pp. 61-72 .

Record details

Hearing loss in Pompe disease revisited: results from a study of 24 children

• Authors : Capelle, Carine; Goedegebure, André; Homans, Nienke

Subjects: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601; name=EMC MGC-02-96-01; /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401

• Source: Capelle , C , Goedegebure , A , Homans , N , Hoeve , H , Reuser , A & van der Ploeg , A 2010 , ' Hearing loss in Pompe disease revisited: results from a study of 24 children ' , Journal of Inherited

Record details