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Search Results for - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3

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ID
 
Description
 
Product
 
Source
(Showing Items: 50)
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3
 
LCL
 
B-Lymphocyte
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3
 
LCL
 
B-Lymphocyte
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3 | PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1
 
DNA
 
LCL
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3 | PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1
 
LCL
 
B-Lymphocyte
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 (WALKER-WARBURG SYNDROME INCLUDED)
 
LCL
 
B-Lymphocyte
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 (WALKER-WARBURG SYNDROME INCLUDED)
 
DNA
 
LCL
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 (WALKER-WARBURG SYNDROME INCLUDED) | FUKUTIN; FKTN
 
LCL
 
B-Lymphocyte
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7
 
Fibroblast
 
Skin, Unspecified
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 | PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2
 
Fibroblast
 
Skin, Unspecified
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 (WALKER-WARBURG SYNDROME INCLUDED)
 
LCL
 
B-Lymphocyte
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 (WALKER-WARBURG SYNDROME INCLUDED)
 
LCL
 
B-Lymphocyte
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 (WALKER-WARBURG SYNDROME INCLUDED)
 
DNA
 
LCL
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 (WALKER-WARBURG SYNDROME INCLUDED)
 
DNA
 
LCL
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6 (WALKER-WARBURG SYNDROME INCLUDED) | CHROMOSOME DELETION | ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE1
 
DNA
 
Fibroblast
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7
 
Fibroblast
 
Skin, Unspecified
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 (WALKER-WARBURG SYNDROME INCLUDED) | FUKUTIN; FKTN
 
Fibroblast
 
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 (WALKER-WARBURG SYNDROME INCLUDED) | FUKUTIN; FKTN
 
DNA
 
Fibroblast
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6 (WALKER-WARBURG SYNDROME INCLUDED) | CHROMOSOME DELETION | ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE1
 
Fibroblast
 
Skin, Unspecified
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 | ISOPRENOID SYNTHASE DOMAIN-CONTAINING PROTEIN; ISPD
 
Fibroblast
 
Skin, Skin
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 | PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2
 
iPSC
 
Fibroblast
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B1 OR TYPE C1 | PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1
 
Fibroblast
 
Skin, Unspecified
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5
 
LCL
 
B-Lymphocyte
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 | FUKUTIN-RELATED PROTEIN; FKRP
 
LCL
 
B-Lymphocyte
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 | FUKUTIN-RELATED PROTEIN; FKRP
 
DNA
 
Fibroblast
 
 
 
 
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
 
LCL
 
B-Lymphocyte
 
 
 
 
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
 
LCL
 
B-Lymphocyte
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 | PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2
 
Fibroblast
 
Skin, Skin
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 | PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2
 
Fibroblast
 
Skin, Skin
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 | FUKUTIN-RELATED PROTEIN; FKRP
 
DNA
 
LCL
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 | FUKUTIN-RELATED PROTEIN; FKRP
 
Fibroblast
 
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 | FUKUTIN-RELATED PROTEIN; FKRP
 
LCL
 
B-Lymphocyte
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 | FUKUTIN-RELATED PROTEIN; FKRP
 
Fibroblast
 
 
 
 
 
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 | APPARENTLY HEALTHY INDIVIDUAL
 
LCL
 
B-Lymphocyte
 
 
 
 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 | FUKUTIN-RELATED PROTEIN; FKRP
 
LCL
 
B-Lymphocyte
 
 
 
 
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; TYPE UNKNOWN (FSHD)
 
Fibroblast
 
Skin, Unspecified
 
 
 
 
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 | FSHD GENE 1; FRG1
 
DNA
 
LCL
 
 
 
 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A | CALPAIN 3; CAPN3
 
LCL
 
B-Lymphocyte
 
 
 
 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A | CALPAIN 3; CAPN3
 
DNA
 
LCL
 
 
 
 
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 | TURNER SYNDROME
 
LCL
 
B-Lymphocyte
 
 
 
 
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
 
LCL
 
B-Lymphocyte
 
 
 
 
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
 
LCL
 
B-Lymphocyte
 
 
 
 
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
 
LCL
 
B-Lymphocyte
 
 
 
 
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
 
LCL
 
B-Lymphocyte
 
 
 
 
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 | TURNER SYNDROME
 
DNA
 
LCL
 
 
 
 
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
 
LCL
 
B-Lymphocyte
 
 
 
 
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
 
DNA
 
LCL
 
 
 
 
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
 
LCL
 
B-Lymphocyte
 
 
 
 
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
 
Fibroblast
 
Skin, Unspecified
 
 
 
 
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
 
LCL
 
B-Lymphocyte
 
 
 
 
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | DYSTROPHIN; DMD
 
DNA
 
LCL

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