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Search Results for -
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
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Also searched for:
FCMD
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY
FUKUYAMA MUSCULAR DYSTROPHY
MDDGA4
MDDGA4 (WALKER-WARBURG SYNDROME INCLUDED)
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED
31242 results -
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Repository:
NIGMS Human Genetic Cell Repository
(13238)
NINDS Repository
(12100)
NIA Aging Cell Culture Repository
(3139)
NHGRI Sample Repository for Human Genetic Research
(2313)
Autism
(262)
HD Community Biorepository
(144)
Centers for Disease Control and Prevention Repository
(27)
Orphan Disease Center
(13)
Allen Cell Collection
(5)
AREDS2
(1)
Collection:
Heritable Diseases
(9401)
Motor Neuron Disease
(4293)
Cerebrovascular Disease
(3559)
NHGRI Sample Repository for Human Genetic Research
(2313)
Chromosome Abnormalities
(2122)
Epilepsy
(1735)
Apparently Healthy Collection
(1368)
Parkinsonism
(1249)
PIGI Consented Sample
(1012)
Human Variation
(978)
dbGaP
(791)
GRC
(784)
CEPH
(742)
Lysosomal Storage Diseases
(731)
Muscular Dystrophies
(555)
Tourette Syndrome
(527)
Control
(458)
Dystonia
(457)
Old Order Amish Major Affective Disorder
(448)
Hybrids
(434)
GeT-RM Samples
(416)
Repository Linkage Families
(369)
Animals
(363)
Hereditary Cancers
(362)
University of Georgia Centenarian Study
(290)
CMD Specific
(279)
Canadian Alzheimer Disease
(226)
Maturity-Onset Diabetes of the Young
(222)
Venezuelan Huntington Disease
(218)
Alzheimer's Disease
(216)
Pharmacogenetics
(199)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(192)
Disorders of the Urea Cycle
(159)
Retinitis Pigmentosa Foundation Collection
(157)
German Alzheimer Disease
(93)
Italian Alzheimer Disease
(88)
The 90+ Study
(68)
Nonhuman Primates
(65)
FOXG1
(63)
Aged Sib Pairs
(62)
Whole-Genome Sequence
(53)
DGAP
(50)
Ames Dwarf Mice
(47)
Alzheimer Disease With No Family History
(29)
Apparently healthy iPSCs
(26)
Gene-Edited hiPSC
(17)
Engineered Cell Cultures
(14)
Non-Healing Wound Collection
(13)
Stem Cell Collection
(12)
Specially Characterized Fibroblasts
(11)
Frontotemporal Degeneration
(2)
Prostate Cancer
(1)
Product:
DNA
(14022)
LCL
(12121)
Fibroblast
(4114)
Somatic cell hybrid
(256)
iPSC
(200)
Plasmid
(119)
Smooth muscle
(58)
Amniotic fluid-derived cell line
(55)
High Molecular Weight DNA
(54)
Endothelial
(44)
Melanocyte
(35)
Keratinocyte
(31)
Adipose stromal cell
(23)
Preprocessed DNA
(21)
Epithelial
(15)
Neuronally-derived
(13)
Tumor-derived cell line
(13)
mESC
(12)
Antibodies
(7)
Chorionic villus-derived cell line
(4)
Hybridoma
(4)
Myeloma
(4)
Protein
(4)
Mesothelial
(3)
Erythroleukemic cell line
(2)
Kidney-derived cell line
(2)
Antigen
(1)
Cytoplasmic transfer (cybrid)
(1)
FFPE
(1)
Microcell hybrid
(1)
hybrid regional mapping panel
(1)
Affected:
Yes
(16986)
No
(5917)
At Risk
(1886)
Unknown
(831)
Mutation Data Available:
N
(26449)
Y
(4792)
No
(1)
Source:
B-Lymphocyte
(12173)
LCL
(8847)
Whole Blood
(3744)
Fibroblast
(1369)
Skin, Arm
(1026)
Skin, Unspecified
(446)
Skin, Skin
(188)
Somatic cell hybrid
(178)
Skin, Foreskin
(123)
Lung, Lung
(106)
Skin, Ear
(64)
Aorta, thoracic
(57)
Amniotic fluid
(54)
Skin, Thigh
(54)
Blood
(36)
Skin, Abdomen
(24)
Amniotic fluid-derived cell line
(23)
Brain striatum
(13)
Trachealis muscle
(12)
Vein, iliac
(11)
Fetal, Unspecified
(10)
Skin, Posterior iliac crest
(10)
Skin, Thorax/abdomen
(10)
Artery, iliac
(9)
Artery, pulmonary
(9)
Gonad, Gonad
(9)
Skin, Buttock
(9)
Skin, Thorax
(9)
Umbilical Cord, Umbilical cord
(9)
Skin, Buttock-thigh
(8)
Skin, Sacrum
(8)
Stem cell
(8)
Skin, Leg
(7)
Breast organoid
(6)
Skin, Back
(6)
Skin, Inguinal area
(6)
Whole embryo, Embryo
(6)
Conjunctiva, Conjunctiva
(5)
Epithelial
(5)
Placental, Placenta
(5)
Retina of eye
(5)
Skin, Fetal
(5)
Skin, Right ischium
(5)
Chorionic villus
(4)
Embryonal carcinoma
(4)
Eye
(4)
Liver, Liver
(4)
Muscle, Unspecified
(4)
Chorionic villus-derived cell line
(3)
Gonad, Ovary
(3)
Gonad, Testes
(3)
Kidney, Kidney
(3)
Tumor-derived cell line
(3)
Amnion, Amnion
(2)
Bladder carcinoma
(2)
Endometrial, Uterus
(2)
Gingival, Gum
(2)
Heart, Pericardium
(2)
Kidney
(2)
Lung
(2)
Skin, Chest
(2)
Skin, Genital area
(2)
Skin, Hip
(2)
Skin, Labialscrotal fold
(2)
Skin, Toe
(2)
Spleen, Keloid
(2)
T-Lymphocyte
(2)
Tendon, Achilles tendon
(2)
Tumor
(2)
Tumor, Fibroma
(2)
Umbilical Cord, Vein, umbilical
(2)
Adenocarcinoma
(1)
Adrenal cortex tumor
(1)
Aorta, abdominal
(1)
Aortic arch
(1)
Artery, Aorta, thoracic
(1)
Artery, carotid
(1)
Ascites fluid
(1)
Ascites fluid, Ascites fluid
(1)
Brain, Brain
(1)
Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chest
(1)
Cornea, Cornea
(1)
Endothelial
(1)
Fetal, Arm
(1)
Hydatidiform mole
(1)
Lens, Eye
(1)
Mesothelial
(1)
Peripheral Vein
(1)
Skin, Axilla
(1)
Skin, Breast
(1)
Skin, Calf
(1)
Skin, Embryo
(1)
Skin, Flank
(1)
Skin, Foot
(1)
Skin, Neck
(1)
Skin, Omentum
(1)
Sex:
Female
(15374)
Male
(15138)
Other
(21)
Race:
White
(21593)
Black/African American
(1525)
More than one race
(456)
Asian
(437)
Other
(383)
Asiatic Indian
(244)
Unknown
(243)
Caucasian
(224)
Hispanic/Latino
(208)
Chinese
(86)
American Indian/Alaska Native
(69)
East Indian
(57)
Not Reported
(40)
Native Hawaiian/Other Pacific Islander
(31)
Asian, Other
(25)
Filipino
(9)
Korean
(5)
Japanese
(3)
Vietnamese
(1)
dbGap Data Available:
No
(29039)
Yes
(2203)
Extended Clinical Data Available:
No
(18503)
Yes
(12739)
Age at Sampling (Years):
0-4
(3809)
45-54
(3677)
55-64
(3651)
35-44
(3275)
5-14
(2752)
25-34
(2656)
65-74
(2482)
15-24
(2361)
75-89
(1384)
90-99
(210)
100+
(69)
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