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DNA (15751)
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B-Lymphocyte (11524)
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NINDS Repository (13853)
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Yes (15599)
No (7803)
At Risk (2629)
Unknown (1307)

Mutation Data Available:

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Y (5189)
No (10)

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0-4 (2337)
5-14 (2334)
15-24 (2403)
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Heritable Diseases (9228)
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NHGRI Sample Repository for Human Genetic Research (2706)
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"Intra-abdominal fat and risk of disease in children and adolescents" study (156)
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Search Results for - LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 2

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Quick View

Description

Product

Source

(Showing Items: 50)

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AG00990

SEIP SYNDROME | LAMIN A/C; LMNA

Fibroblast

Skin, Skin

View

GM20615

NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1

LCL

B-Lymphocyte

View

AG07091

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA | LAMIN A/C; LMNA | NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES

LCL

B-Lymphocyte

View

GM03852

LEBER CONGENITAL AMAUROSIS 1; LCA1

Fibroblast

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GM02958

NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS

Fibroblast

View

NA08385

NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS | NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1

DNA

LCL

View

NA08384

NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS | NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1

DNA

LCL

View

NA08382

NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS | NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1

DNA

LCL

View

GM03903

NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS

Fibroblast

View

GM23917

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 (WALKER-WARBURG SYNDROME INCLUDED) | FUKUTIN; FKTN

LCL

B-Lymphocyte

View

GM20613

NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1

Fibroblast

Umbilical Cord, Vein, umbilical

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GM03851

LEBER CONGENITAL AMAUROSIS 1; LCA1

LCL

B-Lymphocyte

View

GM16192

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 (WALKER-WARBURG SYNDROME INCLUDED) | FUKUTIN; FKTN

Fibroblast

View

NA09462

USHER SYNDROME, TYPE IA; USH1A

DNA

LCL

View

GM09462

USHER SYNDROME, TYPE IA; USH1A

LCL

B-Lymphocyte

View

GM07819

LACTIC ACIDOSIS, CONGENITAL INFANTILE

Fibroblast

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NA09084

USHER SYNDROME, TYPE IA; USH1A

DNA

LCL

View

GM09476

USHER SYNDROME, TYPE IA; USH1A

LCL

B-Lymphocyte

View

GM09473

USHER SYNDROME, TYPE IA; USH1A

LCL

B-Lymphocyte

View

GM09464

USHER SYNDROME, TYPE IA; USH1A

LCL

B-Lymphocyte

View

NA09089

USHER SYNDROME, TYPE IA; USH1A

DNA

LCL

View

GM09474

USHER SYNDROME, TYPE IA; USH1A

LCL

B-Lymphocyte

View

GM09059

USHER SYNDROME, TYPE IA; USH1A

LCL

B-Lymphocyte

View

GM09089

USHER SYNDROME, TYPE IA; USH1A

LCL

B-Lymphocyte

View

NA09081

USHER SYNDROME, TYPE IA; USH1A

DNA

LCL

View

NA09086

USHER SYNDROME, TYPE IA; USH1A

DNA

LCL

View

NA09723

USHER SYNDROME, TYPE IA; USH1A

DNA

LCL

View

GM20951

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia

Fibroblast

Skin, Unspecified

View

GM20948

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia

Fibroblast

Skin, Unspecified

View

NA10197

USHER SYNDROME, TYPE IA; USH1A

DNA

LCL

View

GM03891

USHER SYNDROME, TYPE IA; USH1A

Fibroblast

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GM03892

USHER SYNDROME, TYPE IA; USH1A

LCL

B-Lymphocyte

View

GM10197

USHER SYNDROME, TYPE IA; USH1A

LCL

B-Lymphocyte

View

GM09061

USHER SYNDROME, TYPE IA; USH1A

LCL

B-Lymphocyte

View

GM09062

USHER SYNDROME, TYPE IA; USH1A

LCL

B-Lymphocyte

View

GM26117

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD | ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1

LCL

B-Lymphocyte

View

GM23824

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 | PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2

Fibroblast

Skin, Unspecified

View

GM20614

NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1

LCL

B-Lymphocyte

View

NG07091

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA | LAMIN A/C; LMNA | NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES

DNA

LCL

View

GM24239

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE II, ALPHA-1; COL2A1

LCL

B-Lymphocyte

View

GM24238

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE II, ALPHA-1; COL2A1

LCL

B-Lymphocyte

View

NA24222

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-1; COL6A1

DNA

LCL

View

NA24223

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-1; COL6A1

DNA

Fibroblast

View

GM23305

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-2; COL6A2

LCL

B-Lymphocyte

View

GM27913

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-2; COL6A2

Fibroblast

Skin, Skin

View

GM23307

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-2; COL6A2

Fibroblast

Skin, Unspecified

View

GM24223

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-1; COL6A1

Fibroblast

Skin, Skin

View

GM24222

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-1; COL6A1

LCL

B-Lymphocyte

View

GM23306

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-2; COL6A2

LCL

B-Lymphocyte

View

NA10181

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 (WALKER-WARBURG SYNDROME INCLUDED)

DNA

LCL

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