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Search Results for -
NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE
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Also searched for:
ATAXIA-TELANGIECTASIA VARIANT V1
AT-V1
AT-V2
BBS
IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY
MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES
MICROCEPHALY, NORMAL INTELLIGENCE AND IMMUNODEFICIENCY
NBS
NBS - NIJMEGEN BREAKAGE SYNDROME
NIJMEGEN BREAKAGE SYNDROME
SEEMANOVA SYNDROME II
56031 results
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Repository:
NINDS Repository
(26293)
NIGMS Human Genetic Cell Repository
(17633)
NHGRI Sample Repository for Human Genetic Research
(7438)
NIA Aging Cell Culture Repository
(4195)
Autism
(362)
HD Community Biorepository
(49)
NIAID - USIDnet
(41)
Centers for Disease Control and Prevention Repository
(19)
AREDS
(1)
Collection:
Heritable Diseases
(11026)
Human Variation
(9429)
Parkinsonism
(6667)
Control
(6468)
Cerebrovascular Disease
(5575)
Motor Neuron Disease
(5123)
Epilepsy
(3418)
Chromosome Abnormalities
(2843)
CEPH
(1615)
Apparently Healthy Collection
(1602)
dbGaP
(1406)
Old Order Amish Major Affective Disorder
(1009)
PIGI Consented Sample
(997)
University of Georgia Centenarian Study
(833)
Repository Linkage Families
(816)
Lysosomal Storage Diseases
(723)
GRC
(708)
Tourette Syndrome
(621)
Hybrids
(557)
GeT-RM Samples
(509)
Muscular Dystrophies
(509)
Animals
(486)
Pharmacogenetics
(454)
Hereditary Cancers
(379)
The 90+ Study
(331)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
Venezuelan Huntington Disease
(240)
CMD Specific
(233)
Alzheimer's Disease
(232)
Disorders of the Urea Cycle
(224)
Maturity-Onset Diabetes of the Young
(222)
Dystonia
(221)
Canadian Alzheimer Disease
(204)
Retinitis Pigmentosa Foundation Collection
(146)
Italian Alzheimer Disease
(112)
German Alzheimer Disease
(87)
Stem Cell Collection
(87)
FOXG1
(78)
Aged Sib Pairs
(73)
DGAP
(70)
Whole-Genome Sequence
(49)
Ames Dwarf Mice
(47)
Alzheimer Disease With No Family History
(30)
Engineered Cell Cultures
(15)
Non-Healing Wound Collection
(15)
Apparently healthy iPSCs
(14)
Specially Characterized Fibroblasts
(11)
Gene-Edited hiPSC
(6)
Frontotemporal Degeneration
(4)
Prostate Cancer
(3)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Product:
LCL
(25836)
DNA
(24686)
Fibroblast
(4731)
Somatic cell hybrid
(322)
mESC
(87)
iPSC
(76)
Smooth muscle
(60)
Endothelial
(44)
Plasmid
(38)
Amniotic fluid-derived cell line
(22)
Preprocessed DNA
(21)
High Molecular Weight DNA
(17)
Epithelial
(14)
Tumor-derived cell line
(14)
96 well plate of DNA samples
(13)
Neuronally-derived
(10)
Hybridoma
(7)
Myeloma
(7)
Adipose stromal cell
(5)
Mesothelial
(4)
Chorionic villus-derived cell line
(2)
Erythroleukemic cell line
(2)
Kidney-derived cell line
(2)
Cytoplasmic transfer (cybrid)
(1)
FFPE
(1)
Keratinocyte
(1)
Melanocyte
(1)
Microcell hybrid
(1)
Protein
(1)
Tissue
(1)
Affected:
Yes
(25248)
No
(14153)
Unknown
(3161)
At Risk
(2823)
Mutation Data Available:
N
(50628)
Y
(5390)
No
(13)
Source:
B-Lymphocyte
(25860)
LCL
(21254)
Whole Blood
(1938)
Fibroblast
(1287)
Skin, Arm
(1057)
Skin, Unspecified
(476)
Somatic cell hybrid
(235)
Skin, Skin
(193)
Lung, Lung
(96)
Skin, Ear
(63)
Skin, Foreskin
(60)
Skin, Thigh
(60)
Aorta, thoracic
(57)
Skin, Abdomen
(26)
Amniotic fluid
(22)
Skin, Lung
(22)
Fetal, Unspecified
(12)
Skin, Leg
(12)
Skin, Posterior iliac crest
(12)
Trachealis muscle
(12)
Vein, iliac
(11)
Brain striatum
(10)
Gonad, Gonad
(10)
Skin, Thorax
(10)
Skin, Thorax/abdomen
(10)
Artery, pulmonary
(9)
Skin, Buttock
(9)
Umbilical Cord, Umbilical cord
(9)
Artery, iliac
(8)
Skin, Buttock-thigh
(8)
Skin, Inguinal area
(8)
Skin, Sacrum
(8)
Whole embryo, Embryo
(8)
Gonad, Ovary
(7)
Breast organoid
(6)
Muscle, Unspecified
(6)
Conjunctiva, Conjunctiva
(5)
Epithelial
(5)
Liver, Liver
(5)
Placental, Placenta
(5)
Skin, Back
(5)
Skin, Fetal
(5)
Skin, Right ischium
(5)
Smooth muscle
(5)
Amniotic fluid-derived cell line
(4)
Embryonal carcinoma
(4)
Eye
(4)
Gingival, Gum
(4)
Retina of eye
(4)
Gonad, Testes
(3)
Kidney, Kidney
(3)
Leiomyoma
(3)
PBMC
(3)
Skin
(3)
Skin, Genital area
(3)
Skin, Hip
(3)
Skin, Toe
(3)
Amnion, Amnion
(2)
Ascites fluid
(2)
Bladder carcinoma
(2)
Chorionic villus
(2)
Chorionic villus-derived cell line
(2)
Endometrial, Uterus
(2)
Heart, Pericardium
(2)
Kidney
(2)
Lung
(2)
Mesothelial
(2)
Skin, Calf
(2)
Skin, Chest
(2)
Skin, Neck
(2)
Skin, Shoulder
(2)
Skin, Umbilical area
(2)
Spleen, Keloid
(2)
T-Lymphocyte
(2)
Tendon, Achilles tendon
(2)
Tumor
(2)
Tumor, Fibroma
(2)
Tumor-derived cell line
(2)
Umbilical Cord, Vein, umbilical
(2)
Vein, umbilical
(2)
Adenocarcinoma
(1)
Adrenal cortex tumor
(1)
Aorta, abdominal
(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)
Cornea, Cornea
(1)
Endothelial
(1)
Ewing sarcoma
(1)
Fetal, Arm
(1)
Heart, Unspecified
(1)
Lens, Eye
(1)
Ligament, Teeth
(1)
Neuroepithelioma
(1)
Sex:
Female
(28205)
Male
(26952)
Other
(25)
Race:
White
(36724)
Black/African American
(3224)
Asian
(684)
More than one race
(577)
Other
(536)
Unknown
(415)
Caucasian
(344)
Hispanic/Latino
(328)
Asiatic Indian
(251)
Chinese
(215)
American Indian/Alaska Native
(129)
Native Hawaiian/Other Pacific Islander
(70)
East Indian
(68)
Not Reported
(35)
Asian, Other
(30)
Filipino
(11)
Korean
(6)
Japanese
(4)
Vietnamese
(3)
dbGap Data Available:
No
(48332)
Yes
(7699)
Extended Clinical Data Available:
No
(29085)
Yes
(26946)
Age at Sampling (Years):
45-54
(6983)
55-64
(6943)
35-44
(5615)
65-74
(5438)
25-34
(4395)
5-14
(3968)
15-24
(3531)
0-4
(3479)
75-89
(3216)
90-99
(738)
100+
(231)
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