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Search Results for -
NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK
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Also searched for:
NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA
NIEMANN-PICK DISEASE TYPE C
NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY
NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM
NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM
NIEMANN-PICK DISEASE, TYPE C
NIEMANN-PICK DISEASE, TYPE C1
NPC
NPC1
SUPRAOPTIC VERTICAL OPHTHALMOPLEGIA
67287 results -
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Repository:
NINDS Repository
(37209)
NIGMS Human Genetic Cell Repository
(17993)
NHGRI Sample Repository for Human Genetic Research
(7465)
NIA Aging Cell Culture Repository
(4136)
Autism
(362)
HD Community Biorepository
(82)
Centers for Disease Control and Prevention Repository
(27)
Orphan Disease Center
(13)
Collection:
Cerebrovascular Disease
(13886)
Heritable Diseases
(11499)
Parkinsonism
(8765)
NHGRI Sample Repository for Human Genetic Research
(7465)
Control
(6421)
Motor Neuron Disease
(5555)
Epilepsy
(3438)
Chromosome Abnormalities
(2865)
Human Variation
(1897)
CEPH
(1616)
Apparently Healthy Collection
(1609)
dbGaP
(1327)
PIGI Consented Sample
(1254)
Old Order Amish Major Affective Disorder
(1006)
Repository Linkage Families
(816)
GRC
(780)
Lysosomal Storage Diseases
(745)
University of Georgia Centenarian Study
(716)
Tourette Syndrome
(627)
Hybrids
(558)
Muscular Dystrophies
(543)
GeT-RM Samples
(511)
Animals
(495)
Hereditary Cancers
(382)
Pharmacogenetics
(333)
The 90+ Study
(331)
CMD Specific
(267)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
Alzheimer's Disease
(252)
Venezuelan Huntington Disease
(251)
Canadian Alzheimer Disease
(226)
Dystonia
(226)
Disorders of the Urea Cycle
(225)
Maturity-Onset Diabetes of the Young
(222)
Retinitis Pigmentosa Foundation Collection
(195)
Italian Alzheimer Disease
(121)
Nonhuman Primates
(112)
German Alzheimer Disease
(101)
Stem Cell Collection
(87)
FOXG1
(83)
Aged Sib Pairs
(73)
DGAP
(72)
Whole-Genome Sequence
(52)
Ames Dwarf Mice
(43)
Alzheimer Disease With No Family History
(31)
Apparently healthy iPSCs
(16)
Non-Healing Wound Collection
(16)
Engineered Cell Cultures
(15)
Gene-Edited hiPSC
(13)
Specially Characterized Fibroblasts
(11)
Frontotemporal Degeneration
(6)
Prostate Cancer
(3)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Product:
DNA
(35617)
LCL
(25928)
Fibroblast
(4821)
Somatic cell hybrid
(322)
iPSC
(140)
mESC
(87)
Plasmid
(68)
Smooth muscle
(61)
High Molecular Weight DNA
(58)
Endothelial
(47)
96 well plate of DNA samples
(33)
Preprocessed DNA
(21)
Tumor-derived cell line
(16)
Epithelial
(15)
Neuronally-derived
(13)
Amniotic fluid-derived cell line
(8)
Hybridoma
(7)
Myeloma
(7)
Mesothelial
(4)
Chorionic villus-derived cell line
(2)
Erythroleukemic cell line
(2)
Kidney-derived cell line
(2)
aging mapping panel
(2)
Adipose stromal cell
(1)
Cytoplasmic transfer (cybrid)
(1)
FFPE
(1)
Microcell hybrid
(1)
Protein
(1)
Affected:
Yes
(35738)
No
(14347)
At Risk
(3489)
Unknown
(3164)
Mutation Data Available:
N
(61350)
Y
(5902)
No
(35)
Source:
B-Lymphocyte
(25987)
LCL
(21600)
Whole Blood
(12375)
Fibroblast
(1505)
Skin, Arm
(1071)
Skin, Unspecified
(483)
Somatic cell hybrid
(236)
Skin, Skin
(228)
Lung, Lung
(106)
Skin, Ear
(65)
Skin, Thigh
(65)
Skin, Foreskin
(58)
Aorta, thoracic
(57)
Skin, Abdomen
(27)
Blood
(15)
Brain striatum
(13)
Fetal, Unspecified
(12)
Skin, Leg
(12)
Skin, Posterior iliac crest
(12)
Trachealis muscle
(12)
Vein, iliac
(11)
Gonad, Gonad
(10)
Skin, Thorax
(10)
Skin, Thorax/abdomen
(10)
Artery, iliac
(9)
Artery, pulmonary
(9)
Skin, Buttock
(9)
Umbilical Cord, Umbilical cord
(9)
Amniotic fluid
(8)
Skin, Back
(8)
Skin, Buttock-thigh
(8)
Skin, Inguinal area
(8)
Skin, Sacrum
(8)
Gonad, Ovary
(7)
Whole embryo, Embryo
(7)
Breast organoid
(6)
Muscle, Unspecified
(6)
Conjunctiva, Conjunctiva
(5)
Epithelial
(5)
Liver, Liver
(5)
Placental, Placenta
(5)
Retina of eye
(5)
Skin, Fetal
(5)
Skin, Hip
(5)
Skin, Right ischium
(5)
Amniotic fluid-derived cell line
(4)
Embryonal carcinoma
(4)
Eye
(4)
Gingival, Gum
(4)
Gonad, Testes
(3)
Kidney, Kidney
(3)
Leiomyoma
(3)
Skin, Genital area
(3)
Skin, Toe
(3)
Smooth muscle
(3)
Tumor-derived cell line
(3)
Amnion, Amnion
(2)
Aorta, abdominal
(2)
Aortic arch
(2)
Ascites fluid
(2)
Bladder carcinoma
(2)
Chorionic villus
(2)
Endometrial, Uterus
(2)
Heart, Pericardium
(2)
Kidney
(2)
Lung
(2)
Mesothelial
(2)
Skin, Calf
(2)
Skin, Chest
(2)
Skin, Labialscrotal fold
(2)
Skin, Neck
(2)
Skin, Shoulder
(2)
Skin, Thoraco-lumbar junction
(2)
Skin, Umbilical area
(2)
Spleen, Keloid
(2)
Stem cell
(2)
T-Lymphocyte
(2)
Tendon, Achilles tendon
(2)
Tumor
(2)
Tumor, Fibroma
(2)
Umbilical Cord, Vein, umbilical
(2)
Vein, umbilical
(2)
Adenocarcinoma
(1)
Adrenal cortex tumor
(1)
Artery, Aorta, thoracic
(1)
Artery, carotid
(1)
Ascites fluid, Ascites fluid
(1)
Brain, Brain
(1)
Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chest
(1)
Chorionic villus-derived cell line
(1)
Cornea, Cornea
(1)
Endothelial
(1)
Ewing sarcoma
(1)
Fetal, Arm
(1)
Heart, Unspecified
(1)
Hydatidiform mole
(1)
Sex:
Female
(33811)
Male
(32541)
Other
(26)
Race:
White
(45172)
Black/African American
(5284)
Asian
(937)
More than one race
(765)
Other
(716)
Unknown
(472)
Hispanic/Latino
(336)
Caucasian
(316)
Asiatic Indian
(252)
Chinese
(218)
American Indian/Alaska Native
(199)
Native Hawaiian/Other Pacific Islander
(86)
East Indian
(62)
Not Reported
(51)
Asian, Other
(29)
Filipino
(10)
Korean
(6)
Japanese
(3)
Vietnamese
(3)
dbGap Data Available:
No
(58931)
Yes
(8356)
Extended Clinical Data Available:
Yes
(37964)
No
(29323)
Age at Sampling (Years):
55-64
(9734)
45-54
(9148)
65-74
(7857)
35-44
(6680)
75-89
(4851)
25-34
(4843)
5-14
(4163)
15-24
(3759)
0-4
(3533)
90-99
(726)
100+
(229)
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