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Search Results for -
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3
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EARLY MYOCLONIC ENCEPHALOPATHY
EIEE3
MYOCLONIC EPILEPSY NEONATAL WITH SUPPRESSION-BURST PATTERN
SYMPTOMATIC EARLY MYOCLONIC ENCEPHALOPATHY
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Repository:
NIGMS Human Genetic Cell Repository
(10523)
NINDS Repository
(7300)
NHGRI Sample Repository for Human Genetic Research
(3709)
NIA Aging Cell Culture Repository
(2196)
Autism
(362)
HD Community Biorepository
(39)
Orphan Disease Center
(13)
Centers for Disease Control and Prevention Repository
(5)
Allen Cell Collection
(2)
Collection:
Heritable Diseases
(7026)
NHGRI Sample Repository for Human Genetic Research
(3709)
Cerebrovascular Disease
(2131)
Chromosome Abnormalities
(1799)
Epilepsy
(1787)
Parkinsonism
(1489)
Human Variation
(1020)
Tourette Syndrome
(884)
PIGI Consented Sample
(851)
Apparently Healthy Collection
(823)
CEPH
(792)
dbGaP
(790)
Motor Neuron Disease
(623)
Lysosomal Storage Diseases
(546)
Old Order Amish Major Affective Disorder
(423)
Repository Linkage Families
(401)
Muscular Dystrophies
(400)
GRC
(383)
University of Georgia Centenarian Study
(320)
GeT-RM Samples
(303)
Control
(292)
Dystonia
(230)
Canadian Alzheimer Disease
(226)
Animals
(224)
Hybrids
(224)
Hereditary Cancers
(218)
CMD Specific
(186)
Alzheimer's Disease
(178)
Venezuelan Huntington Disease
(176)
Pharmacogenetics
(174)
The 90+ Study
(159)
Disorders of the Urea Cycle
(145)
Maturity-Onset Diabetes of the Young
(121)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(108)
Retinitis Pigmentosa Foundation Collection
(72)
FOXG1
(61)
Italian Alzheimer Disease
(60)
German Alzheimer Disease
(50)
Nonhuman Primates
(48)
Whole-Genome Sequence
(42)
Aged Sib Pairs
(41)
DGAP
(41)
Ames Dwarf Mice
(28)
Stem Cell Collection
(18)
Alzheimer Disease With No Family History
(17)
Non-Healing Wound Collection
(12)
Gene-Edited hiPSC
(8)
Engineered Cell Cultures
(5)
Specially Characterized Fibroblasts
(3)
Frontotemporal Degeneration
(2)
Prostate Cancer
(2)
Apparently healthy iPSCs
(1)
Product:
DNA
(11021)
LCL
(9657)
Fibroblast
(3036)
Somatic cell hybrid
(118)
iPSC
(89)
Smooth muscle
(41)
Plasmid
(34)
High Molecular Weight DNA
(32)
Amniotic fluid-derived cell line
(29)
Endothelial
(26)
mESC
(18)
Adipose stromal cell
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Epithelial
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Tumor-derived cell line
(7)
Neuronally-derived
(4)
Chorionic villus-derived cell line
(3)
Hybridoma
(3)
Mesothelial
(2)
Antibodies
(1)
Microcell hybrid
(1)
aging mapping panel
(1)
hybrid regional mapping panel
(1)
Affected:
Yes
(9258)
No
(4544)
At Risk
(3080)
Unknown
(1833)
Mutation Data Available:
N
(20515)
Y
(3632)
No
(2)
Source:
B-Lymphocyte
(9688)
LCL
(7044)
Whole Blood
(2958)
Fibroblast
(964)
Skin, Arm
(605)
Skin, Unspecified
(284)
Skin, Skin
(162)
Somatic cell hybrid
(105)
Lung, Lung
(62)
Skin, Thigh
(43)
Aorta, thoracic
(37)
Skin, Ear
(33)
Amniotic fluid
(29)
Skin, Abdomen
(22)
Skin, Foreskin
(15)
Blood
(14)
Amniotic fluid-derived cell line
(12)
Trachealis muscle
(12)
Fetal, Unspecified
(8)
Skin, Leg
(8)
Artery, iliac
(7)
Skin, Posterior iliac crest
(7)
Umbilical Cord, Umbilical cord
(7)
Gonad, Gonad
(6)
Skin, Thorax
(6)
Skin, Back
(5)
Brain striatum
(4)
Conjunctiva, Conjunctiva
(4)
Embryonal carcinoma
(4)
Gonad, Ovary
(4)
Muscle, Unspecified
(4)
Skin, Buttock
(4)
Skin, Right ischium
(4)
Skin, Sacrum
(4)
Whole embryo, Embryo
(4)
Artery, pulmonary
(3)
Breast organoid
(3)
Chorionic villus
(3)
Epithelial
(3)
Gingival, Gum
(3)
Gonad, Testes
(3)
Leiomyoma
(3)
Liver, Liver
(3)
Retina of eye
(3)
Skin, Hip
(3)
Skin, Inguinal area
(3)
Smooth muscle
(3)
Vein, iliac
(3)
Chorionic villus-derived cell line
(2)
Eye
(2)
Heart, Pericardium
(2)
Placental, Placenta
(2)
Skin, Buttock-thigh
(2)
Skin, Calf
(2)
Skin, Chest
(2)
Skin, Genital area
(2)
Skin, Thoraco-lumbar junction
(2)
Skin, Thorax/abdomen
(2)
Spleen, Keloid
(2)
Stem cell
(2)
Tumor, Fibroma
(2)
Umbilical Cord, Vein, umbilical
(2)
Aortic arch
(1)
Artery, Aorta, thoracic
(1)
Ascites fluid
(1)
Brain, Brain
(1)
Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Cornea, Cornea
(1)
Ewing sarcoma
(1)
Heart, Unspecified
(1)
Kidney, Kidney
(1)
Lens, Eye
(1)
Lung
(1)
Mesothelial
(1)
Neuroepithelioma
(1)
Peripheral Vein
(1)
Skin, Embryo
(1)
Skin, Fetal
(1)
Skin, Flank
(1)
Skin, Foot
(1)
Skin, Neck
(1)
Skin, Sacral area
(1)
Skin, Scalp
(1)
Skin, Scrotum
(1)
Skin, Shoulder
(1)
Skin, Toe
(1)
Skin, Umbilical area
(1)
T-Lymphocyte
(1)
Tendon, Leg
(1)
Tumor, Neurofibroma
(1)
Tumor-derived cell line
(1)
Uterine muscle, Uterus
(1)
Vein, umbilical
(1)
Sex:
Female
(12240)
Male
(11530)
Other
(9)
Race:
White
(14680)
Black/African American
(972)
More than one race
(435)
Asian
(342)
Caucasian
(313)
Hispanic/Latino
(232)
Other
(228)
Asiatic Indian
(216)
Unknown
(168)
Chinese
(112)
American Indian/Alaska Native
(42)
East Indian
(35)
Not Reported
(29)
Asian, Other
(18)
Native Hawaiian/Other Pacific Islander
(18)
Filipino
(7)
Korean
(6)
Japanese
(3)
Vietnamese
(3)
dbGap Data Available:
No
(22575)
Yes
(1574)
Extended Clinical Data Available:
No
(16361)
Yes
(7788)
Age at Sampling (Years):
35-44
(2843)
45-54
(2687)
25-34
(2271)
55-64
(2141)
0-4
(2075)
5-14
(1976)
15-24
(1888)
65-74
(1356)
75-89
(816)
90-99
(293)
100+
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