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Search Results for -
DEFICIENCY OF BIOTINIDASE
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BIOTINIDASE
BIOTINIDASE DEFICIENCY
BTD MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET, INCLUDED
JUVENILE MULTIPLE CARBOXYLASE DEFICIENCY
LATE-ONSET MULTIPLE CARBOXYLASE DEFICIENCY
MULTIPLE CARBOXYLASE DEFICIENCY - LATE ONSET
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Repository:
NIGMS Human Genetic Cell Repository
(12255)
NHGRI Sample Repository for Human Genetic Research
(6705)
NINDS Repository
(5199)
NIA Aging Cell Culture Repository
(4119)
HD Community Biorepository
(190)
Centers for Disease Control and Prevention Repository
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Autism
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Orphan Disease Center
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Allen Cell Collection
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Heritable Diseases
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NHGRI Sample Repository for Human Genetic Research
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Cerebrovascular Disease
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Control
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Human Variation
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Apparently Healthy Collection
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Old Order Amish Major Affective Disorder
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PIGI Consented Sample
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University of Georgia Centenarian Study
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Motor Neuron Disease
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GRC
(784)
dbGaP
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Parkinsonism
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Lysosomal Storage Diseases
(736)
Hybrids
(552)
GeT-RM Samples
(486)
Muscular Dystrophies
(486)
Hereditary Cancers
(379)
The 90+ Study
(331)
Epilepsy
(324)
Animals
(322)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
Venezuelan Huntington Disease
(251)
Alzheimer's Disease
(246)
Pharmacogenetics
(226)
Canadian Alzheimer Disease
(225)
Disorders of the Urea Cycle
(225)
Maturity-Onset Diabetes of the Young
(222)
CMD Specific
(218)
CEPH
(174)
Retinitis Pigmentosa Foundation Collection
(147)
Italian Alzheimer Disease
(121)
German Alzheimer Disease
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Repository Linkage Families
(89)
FOXG1
(88)
Aged Sib Pairs
(73)
Nonhuman Primates
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Ames Dwarf Mice
(47)
DGAP
(31)
Alzheimer Disease With No Family History
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Dystonia
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Whole-Genome Sequence
(18)
Non-Healing Wound Collection
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Apparently healthy iPSCs
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Engineered Cell Cultures
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Gene-Edited hiPSC
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Tourette Syndrome
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Prostate Cancer
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Frontotemporal Degeneration
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DNA
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LCL
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Somatic cell hybrid
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iPSC
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96 well plate of DNA samples
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Smooth muscle
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human variation panel
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High Molecular Weight DNA
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Endothelial
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Adipose stromal cell
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Amniotic fluid-derived cell line
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Epithelial
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Antibodies
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Neuronally-derived
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Chorionic villus-derived cell line
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Mesothelial
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aging mapping panel
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Hybridoma
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Antigen
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FFPE
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Keratinocyte
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Kidney-derived cell line
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Microcell hybrid
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Myeloma
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gene mutation panel
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Affected:
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(9604)
No
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Unknown
(2950)
At Risk
(586)
Mutation Data Available:
N
(23476)
Y
(4936)
No
(115)
Source:
B-Lymphocyte
(11576)
LCL
(8508)
Whole Blood
(2500)
Fibroblast
(1159)
Skin, Arm
(1033)
Skin, Unspecified
(416)
Somatic cell hybrid
(233)
Skin, Skin
(195)
Lung, Lung
(94)
Skin, Ear
(64)
Aorta, thoracic
(54)
Skin, Thigh
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Skin, Abdomen
(31)
Amniotic fluid
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Skin, Foreskin
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Brain striatum
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Trachealis muscle
(12)
Vein, iliac
(11)
Amniotic fluid-derived cell line
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Skin, Buttock
(10)
Skin, Thorax
(10)
Skin, Thorax/abdomen
(10)
Artery, pulmonary
(9)
Artery, iliac
(8)
Blood
(8)
Skin, Buttock-thigh
(8)
Skin, Leg
(8)
Skin, Sacrum
(8)
Whole embryo, Embryo
(8)
Skin, Posterior iliac crest
(7)
Stem cell
(7)
Breast organoid
(6)
Skin, Back
(6)
Umbilical Cord, Umbilical cord
(6)
Conjunctiva, Conjunctiva
(5)
Epithelial
(5)
Muscle, Unspecified
(5)
Retina of eye
(5)
Skin, Hip
(5)
Skin, Right ischium
(5)
Chorionic villus
(4)
Embryonal carcinoma
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Eye
(4)
Fetal, Unspecified
(4)
Gonad, Gonad
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Gonad, Ovary
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Liver, Liver
(4)
Chorionic villus-derived cell line
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Gingival, Gum
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Gonad, Testes
(3)
Placental, Placenta
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Skin, Fetal
(3)
Skin, Genital area
(3)
Skin, Inguinal area
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Skin, Toe
(3)
Smooth muscle
(3)
Aortic arch
(2)
Ascites fluid
(2)
Bladder carcinoma
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Endometrial, Uterus
(2)
Heart, Pericardium
(2)
Kidney, Kidney
(2)
Leiomyoma
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Lung
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Mesothelial
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Skin, Labialscrotal fold
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Skin, Neck
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Spleen, Keloid
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T-Lymphocyte
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Tumor
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Tumor-derived cell line
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Adenocarcinoma
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Adrenal cortex tumor
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Amnion, Amnion
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Aorta, abdominal
(1)
Artery, Aorta, thoracic
(1)
Artery, carotid
(1)
Ascites fluid, Ascites fluid
(1)
Brain, Brain
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Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
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Cervix, Cerivix uteri
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Chest
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Endothelial
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Ewing sarcoma
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Fetal, Arm
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Kidney
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Lens, Eye
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Ligament, Teeth
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Neuroepithelioma
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Osteosarcoma
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Peripheral Vein
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Polyp, Nasal
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Skin, Axilla
(1)
Skin, Calf
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Skin, Chest
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Skin, Flank
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Skin, Foot
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Skin, Omentum
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Sex:
Female
(14566)
Male
(12975)
Other
(7)
Race:
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(15266)
Black/African American
(1102)
Hispanic/Latino
(304)
Asian
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Chinese
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More than one race
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Other
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Unknown
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East Indian
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Not Reported
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Asiatic Indian
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American Indian/Alaska Native
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Caucasian
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Asian, Other
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Native Hawaiian/Other Pacific Islander
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Filipino
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Korean
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Japanese
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Vietnamese
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dbGap Data Available:
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(27036)
Yes
(1491)
Extended Clinical Data Available:
No
(22811)
Yes
(5716)
Age at Sampling (Years):
35-44
(2698)
45-54
(2642)
25-34
(2525)
15-24
(2292)
55-64
(2193)
5-14
(2087)
0-4
(1923)
65-74
(1507)
75-89
(940)
90-99
(582)
100+
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