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Search Results for - ECTODERMAL DYSPLASIA, ANHIDROTIC, X-LINKED

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ID
 
Description
 
Product
 
Source
(Showing Items: 50)
 
 
 
 
ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1 | TRANSLOCATED CHROMOSOME
 
LCL
 
B-Lymphocyte
 
 
 
 
CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1
 
LCL
 
B-Lymphocyte
 
 
 
 
CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1
 
Fibroblast
 
Skin, Arm
 
 
 
 
CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1
 
LCL
 
B-Lymphocyte
 
 
 
 
CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1
 
DNA
 
LCL
 
 
 
 
ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
 
DNA
 
LCL
 
 
 
 
ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
 
LCL
 
B-Lymphocyte
 
 
 
 
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1
 
LCL
 
B-Lymphocyte
 
 
 
 
CLEFT LIP/PALATE - ECTODERMAL DYSPLASIA SYNDROME; CLPED1 | POLIOVIRUS RECEPTOR-LIKE 1; PVRL1
 
LCL
 
B-Lymphocyte
 
 
 
 
CLEFT LIP/PALATE - ECTODERMAL DYSPLASIA SYNDROME; CLPED1 | POLIOVIRUS RECEPTOR-LIKE 1; PVRL1
 
Fibroblast
 
 
 
 
 
MARSHALL SYNDROME
 
DNA
 
LCL
 
 
 
 
MARSHALL SYNDROME
 
LCL
 
B-Lymphocyte
 
 
 
 
MARSHALL SYNDROME
 
LCL
 
B-Lymphocyte
 
 
 
 
MARSHALL SYNDROME
 
Fibroblast
 
 
 
 
 
ADRENAL HYPOPLASIA, CONGENITAL; AHC
 
DNA
 
LCL
 
 
 
 
ADRENAL HYPOPLASIA, CONGENITAL; AHC
 
Fibroblast
 
 
 
 
 
ADRENAL HYPOPLASIA, CONGENITAL; AHC
 
LCL
 
B-Lymphocyte
 
 
 
 
MARSHALL SYNDROME
 
LCL
 
B-Lymphocyte
 
 
 
 
THANATOPHORIC DYSPLASIA; TD
 
Fibroblast
 
 
 
 
 
SPONDYLOPERIPHERAL DYSPLASIA
 
LCL
 
B-Lymphocyte
 
 
 
 
SPONDYLOPERIPHERAL DYSPLASIA
 
LCL
 
B-Lymphocyte
 
 
 
 
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 | TRANSLOCATED CHROMOSOME
 
Fibroblast
 
 
 
 
 
KALLMANN SYN; HYPOGONADOTROPIC HYPOGONADISM, ANOSMIA- 147950, 244200, 308700
 
LCL
 
B-Lymphocyte
 
 
 
 
KALLMANN SYN; HYPOGONADOTROPIC HYPOGONADISM, ANOSMIA- 147950, 244200, 308700
 
DNA
 
LCL
 
 
 
 
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 | GLYPICAN 3; GPC3
 
DNA
 
Fibroblast
 
 
 
 
MENTAL RETARDATION, X-LINKED 102; MRX102 | DEAD/H BOX 3, X-LINKED; DDX3X
 
Fibroblast
 
Skin, Skin
 
 
 
 
THANATOPHORIC DYSPLASIA; UNKNOWN TYPE
 
Fibroblast
 
Lung, Lung
 
 
 
 
THANATOPHORIC DYSPLASIA; UNKNOWN TYPE
 
Fibroblast
 
Muscle, Unspecified
 
 
 
 
FRAGILE X MENTAL RETARDATION SYNDROME
 
Fibroblast
 
 
 
 
 
FRAGILE X MENTAL RETARDATION SYNDROME
 
DNA
 
Fibroblast
 
 
 
 
KALLMANN SYN; HYPOGONADOTROPIC HYPOGONADISM, ANOSMIA- 147950, 244200, 308700 | TRANSLOCATED CHROMOSOME
 
LCL
 
B-Lymphocyte
 
 
 
 
KALLMANN SYN; HYPOGONADOTROPIC HYPOGONADISM, ANOSMIA- 147950, 244200, 308700 | TRANSLOCATED CHROMOSOME
 
DNA
 
LCL
 
 
 
 
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 | GLYPICAN 3; GPC3
 
Fibroblast
 
 
 
 
 
DYSTONIA 3, TORSION, X-LINKED; DYT3
 
DNA
 
Whole Blood
 
 
 
 
IMMUNOOSSEOUS DYSPLASIA
 
Fibroblast
 
 
 
 
 
PSEUDOACHONDROPLASTIC DYSPLASIA
 
Fibroblast
 
 
 
 
 
TURNER SYNDROME
 
LCL
 
B-Lymphocyte
 
 
 
 
VERTEBRAL ANOMALIES
 
LCL
 
B-Lymphocyte
 
 
 
 
KNIEST DYSPLASIA
 
Fibroblast
 
 
 
 
 
CLEIDOCRANIAL DYSPLASIA; CCD
 
LCL
 
B-Lymphocyte
 
 
 
 
VERTEBRAL ANOMALIES
 
LCL
 
B-Lymphocyte
 
 
 
 
CLEIDOCRANIAL DYSPLASIA; CCD
 
LCL
 
B-Lymphocyte
 
 
 
 
THANATOPHORIC DYSPLASIA; TD
 
Fibroblast
 
 
 
 
 
VERTEBRAL ANOMALIES
 
LCL
 
B-Lymphocyte
 
 
 
 
KNIEST DYSPLASIA
 
Fibroblast
 
 
 
 
 
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS
 
DNA
 
LCL
 
 
 
 
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS
 
LCL
 
B-Lymphocyte
 
 
 
 
DYSTONIA 3, TORSION, X-LINKED; DYT3
 
DNA
 
Whole Blood
 
 
 
 
DYSTONIA 3, TORSION, X-LINKED; DYT3
 
DNA
 
Whole Blood
 
 
 
 
ICHTHYOSIS, X-LINKED, WITHOUT STEROID SULFATASE DEFICIENCY
 
LCL
 
B-Lymphocyte

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