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Search Results for -
CONGENITAL MYASTHENIC SYNDROME TYPE IA2
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(and perform an exact match search)
Also searched for:
CMS IA2
CMS1A2
CMS-EA
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
MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
18236 results -
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Repository:
NINDS Repository
(10603)
NIGMS Human Genetic Cell Repository
(6954)
NIA Aging Cell Culture Repository
(647)
Centers for Disease Control and Prevention Repository
(12)
Autism
(10)
Orphan Disease Center
(8)
Allen Cell Collection
(2)
Collection:
Heritable Diseases
(6314)
Tourette Syndrome
(4382)
Motor Neuron Disease
(3869)
Cerebrovascular Disease
(1580)
Chromosome Abnormalities
(1366)
PIGI Consented Sample
(782)
Lysosomal Storage Diseases
(509)
Parkinsonism
(489)
Muscular Dystrophies
(414)
dbGaP
(367)
Dystonia
(278)
GeT-RM Samples
(230)
Canadian Alzheimer Disease
(226)
Maturity-Onset Diabetes of the Young
(222)
Old Order Amish Major Affective Disorder
(214)
Hereditary Cancers
(207)
CMD Specific
(195)
Apparently Healthy Collection
(100)
FOXG1
(93)
Hybrids
(67)
Disorders of the Urea Cycle
(19)
Pharmacogenetics
(18)
DGAP
(17)
Gene-Edited hiPSC
(14)
Alzheimer's Disease
(13)
Human Variation
(10)
Whole-Genome Sequence
(9)
Animals
(7)
Epilepsy
(7)
Specially Characterized Fibroblasts
(6)
Apparently healthy iPSCs
(5)
Engineered Cell Cultures
(5)
CEPH
(3)
Control
(2)
Non-Healing Wound Collection
(2)
Repository Linkage Families
(2)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Alzheimer Disease With No Family History
(1)
Product:
DNA
(10638)
LCL
(5374)
Fibroblast
(2002)
iPSC
(121)
Somatic cell hybrid
(60)
High Molecular Weight DNA
(20)
Amniotic fluid-derived cell line
(15)
Chorionic villus-derived cell line
(1)
Cytoplasmic transfer (cybrid)
(1)
Keratinocyte
(1)
Microcell hybrid
(1)
Tumor-derived cell line
(1)
aging mapping panel
(1)
Affected:
Yes
(14148)
No
(1691)
At Risk
(1240)
Unknown
(98)
Mutation Data Available:
N
(15390)
Y
(2845)
No
(1)
Source:
Whole Blood
(6514)
B-Lymphocyte
(5393)
LCL
(3518)
Fibroblast
(689)
Skin, Unspecified
(284)
Skin, Arm
(224)
Skin, Skin
(172)
Skin, Thigh
(42)
Lung, Lung
(33)
Blood
(20)
Amniotic fluid
(15)
Skin, Posterior iliac crest
(9)
Amniotic fluid-derived cell line
(8)
Skin, Thorax
(8)
Somatic cell hybrid
(7)
Skin, Back
(6)
Skin, Buttock
(4)
Skin, Leg
(4)
Umbilical Cord, Umbilical cord
(4)
Fetal, Unspecified
(3)
Kidney, Kidney
(3)
Liver, Liver
(3)
Muscle, Unspecified
(3)
Skin, Buttock-thigh
(3)
Skin, Genital area
(3)
Skin, Hip
(3)
Stem cell
(3)
Gonad, Gonad
(2)
Placental, Placenta
(2)
Skin, Fetal
(2)
Skin, Labialscrotal fold
(2)
Skin, Sacrum
(2)
Skin, Thorax/abdomen
(2)
Amnion, Amnion
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chest
(1)
Chorionic villus
(1)
Chorionic villus-derived cell line
(1)
Cornea, Cornea
(1)
Fetal, Arm
(1)
Gingival, Gum
(1)
Gonad, Testes
(1)
Heart, Pericardium
(1)
Heart, Unspecified
(1)
Lens, Eye
(1)
Ligament, Teeth
(1)
Skin, Abdomen
(1)
Skin, Axilla
(1)
Skin, Calf
(1)
Skin, Flank
(1)
Skin, Foot
(1)
Skin, Foreskin
(1)
Spleen, Keloid
(1)
Tumor, Abdomen
(1)
Tumor, Adenoma
(1)
Tumor, Fibroma
(1)
Tumor, Hepatoblastoma
(1)
Tumor, Neurofibroma
(1)
Umbilical Cord, Vein, umbilical
(1)
Sex:
Male
(9801)
Female
(8327)
Other
(12)
Race:
White
(15146)
Black/African American
(557)
More than one race
(405)
Asian
(285)
Other
(245)
Unknown
(95)
Hispanic/Latino
(64)
American Indian/Alaska Native
(44)
Not Reported
(29)
Asiatic Indian
(22)
Asian, Other
(18)
East Indian
(17)
Caucasian
(13)
Native Hawaiian/Other Pacific Islander
(13)
Korean
(5)
Filipino
(3)
Japanese
(3)
Chinese
(1)
Vietnamese
(1)
dbGap Data Available:
No
(14547)
Yes
(3689)
Extended Clinical Data Available:
Yes
(10934)
No
(7302)
Age at Sampling (Years):
5-14
(2786)
45-54
(2457)
35-44
(2395)
55-64
(2288)
15-24
(1901)
25-34
(1741)
65-74
(1715)
0-4
(1264)
75-89
(722)
90-99
(16)
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