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Search Results for - "PIGI"

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ID
 
Description
 
Product
 
Source
(Showing Items: 50)
 
 
 
 
CENTRONUCLEAR MYOPATHY - TYPE UNKNOWN
 
LCL
 
B-Lymphocyte
 
 
 
 
GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1
 
LCL
 
B-Lymphocyte
 
 
 
 
CENTRONUCLEAR MYOPATHY - TYPE UNKNOWN
 
LCL
 
B-Lymphocyte
 
 
 
 
RETT SYNDROME, CONGENITAL VARIANT
 
LCL
 
B-Lymphocyte
 
 
 
 
RETT SYNDROME, CONGENITAL VARIANT
 
Fibroblast
 
Skin, Skin
 
 
 
 
APPARENTLY HEALTHY INDIVIDUAL
 
LCL
 
B-Lymphocyte
 
 
 
 
TURNER SYNDROME
 
LCL
 
B-Lymphocyte
 
 
 
 
RETT SYNDROME, CONGENITAL VARIANT
 
LCL
 
B-Lymphocyte
 
 
 
 
PERSONAL GENOME PROJECT | APPARENTLY HEALTHY INDIVIDUAL
 
LCL
 
B-Lymphocyte
 
 
 
 
DUPLICATED CHROMOSOME
 
LCL
 
B-Lymphocyte
 
 
 
 
PITT-HOPKINS SYNDROME; PTHS
 
LCL
 
B-Lymphocyte
 
 
 
 
RETT SYNDROME, CONGENITAL VARIANT
 
LCL
 
B-Lymphocyte
 
 
 
 
CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
 
LCL
 
B-Lymphocyte
 
 
 
 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66; DEE66
 
LCL
 
B-Lymphocyte
 
 
 
 
PERSONAL GENOME PROJECT
 
LCL
 
B-Lymphocyte
 
 
 
 
RETT SYNDROME, CONGENITAL VARIANT
 
LCL
 
B-Lymphocyte
 
 
 
 
RETT SYNDROME, CONGENITAL VARIANT
 
Fibroblast
 
 
 
 
 
PERSONAL GENOME PROJECT
 
LCL
 
B-Lymphocyte
 
 
 
 
RETT SYNDROME, CONGENITAL VARIANT
 
LCL
 
B-Lymphocyte
 
 
 
 
SMITH-MAGENIS SYNDROME; SMS
 
LCL
 
B-Lymphocyte
 
 
 
 
PERSONAL GENOME PROJECT
 
LCL
 
B-Lymphocyte
 
 
 
 
SMITH-MAGENIS SYNDROME; SMS
 
LCL
 
B-Lymphocyte
 
 
 
 
POTOCKI-LUPSKI SYNDROME; PTLS
 
DNA
 
LCL
 
 
 
 
SMITH-MAGENIS SYNDROME; SMS
 
DNA
 
LCL
 
 
 
 
LEIGH SYNDROME; LS
 
Fibroblast
 
Skin, Skin
 
 
 
 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40 | CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1
 
LCL
 
B-Lymphocyte
 
 
 
 
DUPLICATED CHROMOSOME
 
LCL
 
B-Lymphocyte
 
 
 
 
RETT SYNDROME, CONGENITAL VARIANT
 
LCL
 
B-Lymphocyte
 
 
 
 
PERSONAL GENOME PROJECT
 
LCL
 
B-Lymphocyte
 
 
 
 
PERSONAL GENOME PROJECT
 
LCL
 
B-Lymphocyte
 
 
 
 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
 
DNA
 
LCL
 
 
 
 
CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
 
LCL
 
B-Lymphocyte
 
 
 
 
TURNER SYNDROME
 
DNA
 
LCL
 
 
 
 
PERSONAL GENOME PROJECT
 
LCL
 
B-Lymphocyte
 
 
 
 
SMITH-MAGENIS SYNDROME; SMS
 
LCL
 
B-Lymphocyte
 
 
 
 
PERSONAL GENOME PROJECT
 
LCL
 
B-Lymphocyte
 
 
 
 
PERSONAL GENOME PROJECT
 
LCL
 
B-Lymphocyte
 
 
 
 
MYOTUBULAR MYOPATHY 1; MTM1
 
LCL
 
B-Lymphocyte
 
 
 
 
PITT-HOPKINS SYNDROME; PTHS | TRANSCRIPTION FACTOR 4; TCF4
 
Fibroblast
 
 
 
 
 
PERSONAL GENOME PROJECT
 
LCL
 
B-Lymphocyte
 
 
 
 
TURNER SYNDROME
 
iPSC
 
Blood
 
 
 
 
CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
 
LCL
 
B-Lymphocyte
 
 
 
 
SCHUURS-HOEIJMAKERS SYNDROME; SHMS
 
DNA
 
LCL
 
 
 
 
PITT-HOPKINS SYNDROME; PTHS
 
Fibroblast
 
 
 
 
 
RETT SYNDROME, CONGENITAL VARIANT
 
LCL
 
B-Lymphocyte
 
 
 
 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52
 
LCL
 
B-Lymphocyte
 
 
 
 
PERSONAL GENOME PROJECT | APPARENTLY HEALTHY INDIVIDUAL
 
DNA
 
LCL
 
 
 
 
PERSONAL GENOME PROJECT
 
LCL
 
B-Lymphocyte
 
 
 
 
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5 | BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION; BPAN
 
LCL
 
B-Lymphocyte
 
 
 
 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
 
LCL
 
B-Lymphocyte

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