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Search Results for -
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
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Also searched for:
MDDGA3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
42476 results -
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Repository:
NINDS Repository
(34534)
NIGMS Human Genetic Cell Repository
(6236)
NIA Aging Cell Culture Repository
(1577)
HD Community Biorepository
(77)
Centers for Disease Control and Prevention Repository
(27)
Orphan Disease Center
(13)
Autism
(8)
Allen Cell Collection
(4)
Collection:
Cerebrovascular Disease
(13886)
Parkinsonism
(8354)
Heritable Diseases
(5649)
Motor Neuron Disease
(5555)
Tourette Syndrome
(4382)
Epilepsy
(2233)
Chromosome Abnormalities
(1310)
Control
(956)
PIGI Consented Sample
(810)
Lysosomal Storage Diseases
(623)
Apparently Healthy Collection
(528)
dbGaP
(356)
Muscular Dystrophies
(338)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
Alzheimer's Disease
(252)
Venezuelan Huntington Disease
(251)
GeT-RM Samples
(235)
Canadian Alzheimer Disease
(226)
CMD Specific
(209)
Dystonia
(182)
Hereditary Cancers
(166)
Italian Alzheimer Disease
(121)
German Alzheimer Disease
(101)
Animals
(91)
FOXG1
(90)
Hybrids
(67)
Alzheimer Disease With No Family History
(31)
DGAP
(22)
Whole-Genome Sequence
(19)
CEPH
(16)
Pharmacogenetics
(16)
Disorders of the Urea Cycle
(12)
Gene-Edited hiPSC
(11)
Old Order Amish Major Affective Disorder
(8)
Human Variation
(7)
Nonhuman Primates
(7)
Frontotemporal Degeneration
(6)
Apparently healthy iPSCs
(5)
GRC
(5)
Non-Healing Wound Collection
(4)
Aged Sib Pairs
(3)
Repository Linkage Families
(2)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Engineered Cell Cultures
(1)
Product:
DNA
(28111)
LCL
(11931)
Fibroblast
(1947)
iPSC
(139)
Plasmid
(64)
Smooth muscle
(61)
Somatic cell hybrid
(60)
Endothelial
(34)
96 well plate of DNA samples
(33)
Preprocessed DNA
(20)
High Molecular Weight DNA
(18)
Amniotic fluid-derived cell line
(14)
Neuronally-derived
(13)
Epithelial
(12)
Adipose stromal cell
(11)
aging mapping panel
(3)
Tumor-derived cell line
(2)
Chorionic villus-derived cell line
(1)
Cytoplasmic transfer (cybrid)
(1)
Keratinocyte
(1)
Affected:
Yes
(32124)
At Risk
(6078)
No
(2785)
Unknown
(125)
Mutation Data Available:
N
(38851)
Y
(3589)
No
(36)
Source:
Whole Blood
(17712)
B-Lymphocyte
(11949)
LCL
(9809)
Fibroblast
(683)
Skin, Arm
(286)
Skin, Unspecified
(269)
Skin, Skin
(173)
Aorta, thoracic
(49)
Skin, Thigh
(48)
Blood
(21)
Lung, Lung
(17)
Amniotic fluid
(14)
Brain striatum
(13)
Trachealis muscle
(12)
Skin, Abdomen
(10)
Artery, pulmonary
(9)
Skin, Thorax
(9)
Vein, iliac
(9)
Artery, iliac
(7)
Skin, Back
(7)
Somatic cell hybrid
(7)
Amniotic fluid-derived cell line
(6)
Muscle, Unspecified
(6)
Stem cell
(6)
Retina of eye
(5)
Skin, Leg
(5)
Eye
(4)
Liver, Liver
(4)
Skin, Buttock
(4)
Skin, Hip
(4)
Breast organoid
(3)
Conjunctiva, Conjunctiva
(3)
Fetal, Unspecified
(3)
Gonad, Gonad
(3)
Kidney, Kidney
(3)
Leiomyoma
(3)
Skin, Genital area
(3)
Smooth muscle
(3)
Aortic arch
(2)
Placental, Placenta
(2)
Skin, Fetal
(2)
Skin, Thorax/abdomen
(2)
Umbilical Cord, Umbilical cord
(2)
Vein, umbilical
(2)
Amnion, Amnion
(1)
Aorta, abdominal
(1)
Artery, carotid
(1)
Brain, Brain
(1)
Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cervix, Cerivix uteri
(1)
Chorionic villus
(1)
Chorionic villus-derived cell line
(1)
Endothelial
(1)
Gingival, Gum
(1)
Gonad, Testes
(1)
Heart, Pericardium
(1)
Heart, Unspecified
(1)
Hydatidiform mole
(1)
Lens, Eye
(1)
Ligament, Teeth
(1)
Skin, Axilla
(1)
Skin, Buttock-thigh
(1)
Skin, Calf
(1)
Skin, Flank
(1)
Skin, Foot
(1)
Skin, Foreskin
(1)
Skin, Labialscrotal fold
(1)
Skin, Sacral area
(1)
Skin, Sacrum
(1)
Skin, Scalp
(1)
Skin, Shoulder
(1)
Skin, Toe
(1)
Spleen, Keloid
(1)
Tumor
(1)
Tumor, Abdomen
(1)
Tumor, Adenoma
(1)
Tumor, Fibroma
(1)
Tumor, Hepatoblastoma
(1)
Tumor-derived cell line
(1)
Umbilical Cord, Vein, umbilical
(1)
Uterine muscle, Uterus
(1)
Sex:
Male
(21700)
Female
(20500)
Other
(7)
Race:
White
(34306)
Black/African American
(3477)
More than one race
(1008)
Asian
(757)
Other
(582)
Unknown
(356)
American Indian/Alaska Native
(153)
Hispanic/Latino
(103)
Native Hawaiian/Other Pacific Islander
(63)
Not Reported
(44)
Asiatic Indian
(21)
Asian, Other
(19)
East Indian
(18)
Caucasian
(12)
Korean
(5)
Filipino
(1)
Japanese
(1)
dbGap Data Available:
No
(34484)
Yes
(7992)
Extended Clinical Data Available:
Yes
(34952)
No
(7524)
Age at Sampling (Years):
55-64
(8157)
45-54
(7607)
65-74
(6724)
35-44
(5122)
75-89
(4024)
5-14
(3109)
25-34
(2773)
15-24
(2276)
0-4
(1265)
90-99
(188)
100+
(8)
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