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Search Results for -
MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
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Also searched for:
CMS IA2
CMS1A2
CMS-EA
CONGENITAL MYASTHENIC SYNDROME TYPE IA2
FAMILIAL INFANTILE MYASTHENIA
FIM
FIM - FAMILIAL INFANTILE MYASTHENIA
FIMG2, FORMERLY
MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 2, FORMERLY
MYASTHENIA, FAMILIAL INFANTILE
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
60815 results -
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Repository:
NINDS Repository
(30673)
NIGMS Human Genetic Cell Repository
(18106)
NHGRI Sample Repository for Human Genetic Research
(7468)
NIA Aging Cell Culture Repository
(4139)
Autism
(362)
HD Community Biorepository
(48)
Centers for Disease Control and Prevention Repository
(19)
Collection:
Heritable Diseases
(11585)
NHGRI Sample Repository for Human Genetic Research
(7468)
Parkinsonism
(6975)
Control
(6385)
Cerebrovascular Disease
(5776)
Motor Neuron Disease
(5131)
Tourette Syndrome
(4382)
Epilepsy
(3431)
Chromosome Abnormalities
(2887)
Human Variation
(1897)
CEPH
(1615)
Apparently Healthy Collection
(1608)
dbGaP
(1325)
PIGI Consented Sample
(1319)
Old Order Amish Major Affective Disorder
(1006)
Repository Linkage Families
(816)
GRC
(782)
Lysosomal Storage Diseases
(750)
University of Georgia Centenarian Study
(716)
Hybrids
(555)
Muscular Dystrophies
(553)
GeT-RM Samples
(510)
Animals
(495)
Hereditary Cancers
(391)
Pharmacogenetics
(333)
The 90+ Study
(331)
CMD Specific
(278)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
Alzheimer's Disease
(249)
Dystonia
(248)
Venezuelan Huntington Disease
(243)
Canadian Alzheimer Disease
(226)
Disorders of the Urea Cycle
(226)
Maturity-Onset Diabetes of the Young
(222)
Retinitis Pigmentosa Foundation Collection
(195)
Italian Alzheimer Disease
(120)
Nonhuman Primates
(112)
German Alzheimer Disease
(99)
FOXG1
(93)
Stem Cell Collection
(87)
Aged Sib Pairs
(73)
DGAP
(72)
Whole-Genome Sequence
(51)
Ames Dwarf Mice
(43)
Alzheimer Disease With No Family History
(31)
Non-Healing Wound Collection
(16)
Engineered Cell Cultures
(15)
Apparently healthy iPSCs
(13)
Gene-Edited hiPSC
(12)
Specially Characterized Fibroblasts
(11)
Frontotemporal Degeneration
(4)
Prostate Cancer
(3)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Product:
DNA
(29162)
LCL
(25943)
Fibroblast
(4827)
Somatic cell hybrid
(320)
iPSC
(150)
mESC
(87)
High Molecular Weight DNA
(71)
Smooth muscle
(61)
Endothelial
(47)
Plasmid
(37)
Preprocessed DNA
(20)
Amniotic fluid-derived cell line
(18)
Epithelial
(15)
Tumor-derived cell line
(15)
Neuronally-derived
(10)
Hybridoma
(7)
Myeloma
(7)
Mesothelial
(4)
Chorionic villus-derived cell line
(2)
Erythroleukemic cell line
(2)
Kidney-derived cell line
(2)
Adipose stromal cell
(1)
Cytoplasmic transfer (cybrid)
(1)
FFPE
(1)
Keratinocyte
(1)
Microcell hybrid
(1)
Protein
(1)
aging mapping panel
(1)
Affected:
Yes
(29036)
No
(14326)
At Risk
(3796)
Unknown
(3162)
Mutation Data Available:
N
(54851)
Y
(5963)
No
(1)
Source:
B-Lymphocyte
(26008)
LCL
(21572)
Whole Blood
(5907)
Fibroblast
(1544)
Skin, Arm
(1071)
Skin, Unspecified
(483)
Somatic cell hybrid
(235)
Skin, Skin
(230)
Lung, Lung
(106)
Skin, Ear
(65)
Skin, Thigh
(65)
Skin, Foreskin
(59)
Aorta, thoracic
(57)
Blood
(33)
Skin, Abdomen
(27)
Amniotic fluid
(18)
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, iliac
(9)
Artery, pulmonary
(9)
Skin, Buttock
(9)
Umbilical Cord, Umbilical cord
(9)
Amniotic fluid-derived cell line
(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)
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)
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)
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)
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)
Lens, Eye
(1)
Ligament, Teeth
(1)
Sex:
Male
(29997)
Female
(29957)
Other
(26)
Race:
White
(40978)
Black/African American
(3391)
Asian
(815)
More than one race
(812)
Other
(603)
Unknown
(437)
Hispanic/Latino
(336)
Caucasian
(315)
Asiatic Indian
(255)
Chinese
(217)
American Indian/Alaska Native
(138)
Native Hawaiian/Other Pacific Islander
(72)
East Indian
(62)
Not Reported
(40)
Asian, Other
(30)
Filipino
(10)
Korean
(6)
Japanese
(3)
Vietnamese
(3)
dbGap Data Available:
No
(50679)
Yes
(10136)
Extended Clinical Data Available:
Yes
(31510)
No
(29305)
Age at Sampling (Years):
45-54
(7635)
55-64
(7349)
35-44
(6426)
65-74
(5748)
5-14
(5254)
25-34
(4864)
15-24
(4266)
0-4
(3564)
75-89
(3361)
90-99
(638)
100+
(227)
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