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Search Results for - HYPOMELIA-HYPOTRICHOSIS-FACIAL HEMANGIOMA SYNDROME

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ID
 
Description
 
Product
 
Source
(Showing Items: 50)
 
 
 
 
ROBERTS SYNDROME; RBS | ANEUPLOID CHROMOSOME NUMBER - TRISOMY
 
DNA
 
Fibroblast
 
 
 
 
ROBERTS SYNDROME; RBS | ANEUPLOID CHROMOSOME NUMBER - TRISOMY
 
Fibroblast
 
 
 
 
 
ROBERTS SYNDROME; RBS | ESTABLISHMENT OF COHESION 1, S. CERVISIAE, HOMOLOG OF, 2; ESCO2
 
DNA
 
LCL
 
 
 
 
ROBERTS SYNDROME; RBS | ESTABLISHMENT OF COHESION 1, S. CERVISIAE, HOMOLOG OF, 2; ESCO2
 
Fibroblast
 
Skin, Unspecified
 
 
 
 
ROBERTS SYNDROME; RBS | ESTABLISHMENT OF COHESION 1, S. CERVISIAE, HOMOLOG OF, 2; ESCO2
 
Amniotic fluid-derived cell line
 
Amniotic fluid
 
 
 
 
ROBERTS SYNDROME; RBS | ESTABLISHMENT OF COHESION 1, S. CERVISIAE, HOMOLOG OF, 2; ESCO2
 
Fibroblast
 
Skin, Skin
 
 
 
 
ROBERTS SYNDROME; RBS | ESTABLISHMENT OF COHESION 1, S. CERVISIAE, HOMOLOG OF, 2; ESCO2
 
LCL
 
B-Lymphocyte
 
 
 
 
SMITH-MAGENIS SYNDROME; SMS
 
Fibroblast
 
Skin, Skin
 
 
 
 
SMITH-MAGENIS SYNDROME; SMS
 
LCL
 
B-Lymphocyte
 
 
 
 
BECKWITH-WIEDEMANN SYNDROME; BWS
 
LCL
 
B-Lymphocyte
 
 
 
 
BECKWITH-WIEDEMANN SYNDROME; BWS
 
DNA
 
LCL
 
 
 
 
PERSONAL GENOME PROJECT
 
LCL
 
B-Lymphocyte
 
 
 
 
PRADER-WILLI SYNDROME; PWS
 
LCL
 
B-Lymphocyte
 
 
 
 
PSEUDOTRISOMY 13 SYNDROME (HOLOPROSENCEPHALY-POLYDACTYLY SYNDROME)
 
LCL
 
B-Lymphocyte
 
 
 
 
PSEUDOTRISOMY 13 SYNDROME (HOLOPROSENCEPHALY-POLYDACTYLY SYNDROME)
 
DNA
 
LCL
 
 
 
 
PERSONAL GENOME PROJECT
 
DNA
 
LCL
 
 
 
 
PERSONAL GENOME PROJECT
 
LCL
 
B-Lymphocyte
 
 
 
 
PERSONAL GENOME PROJECT
 
High Molecular Weight DNA
 
B-Lymphocyte
 
 
 
 
PERSONAL GENOME PROJECT
 
High Molecular Weight DNA
 
B-Lymphocyte
 
 
 
 
PERSONAL GENOME PROJECT
 
LCL
 
B-Lymphocyte
 
 
 
 
PERSONAL GENOME PROJECT
 
DNA
 
LCL
 
 
 
 
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME | APPARENTLY HEALTHY INDIVIDUAL
 
DNA
 
LCL
 
 
 
 
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME | APPARENTLY HEALTHY INDIVIDUAL
 
LCL
 
B-Lymphocyte
 
 
 
 
MOEBIUS SYNDROME 1; MBS1
 
LCL
 
B-Lymphocyte
 
 
 
 
ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1 | TRANSLOCATED CHROMOSOME
 
LCL
 
B-Lymphocyte
 
 
 
 
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED | FIBROMUSCULAR DYSPLASIA OF ARTERIES
 
Fibroblast
 
Skin, Arm
 
 
 
 
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED
 
Fibroblast
 
Skin, Arm
 
 
 
 
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED
 
LCL
 
B-Lymphocyte
 
 
 
 
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED | FIBROMUSCULAR DYSPLASIA OF ARTERIES
 
LCL
 
B-Lymphocyte
 
 
 
 
EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE | COLLAGEN, TYPE III, ALPHA-1; COL3A1
 
LCL
 
B-Lymphocyte
 
 
 
 
EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE | COLLAGEN, TYPE III, ALPHA-1; COL3A1
 
DNA
 
LCL
 
 
 
 
EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE | COLLAGEN, TYPE III, ALPHA-1; COL3A1
 
LCL
 
B-Lymphocyte
 
 
 
 
EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE | COLLAGEN, TYPE III, ALPHA-1; COL3A1
 
LCL
 
B-Lymphocyte
 
 
 
 
JACOBSEN SYNDROME; JBS
 
DNA
 
LCL
 
 
 
 
JACOBSEN SYNDROME; JBS
 
DNA
 
LCL
 
 
 
 
WEAVER SYNDROME
 
DNA
 
LCL
 
 
 
 
WEAVER SYNDROME
 
LCL
 
B-Lymphocyte
 
 
 
 
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA
 
LCL
 
B-Lymphocyte
 
 
 
 
MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1
 
LCL
 
B-Lymphocyte
 
 
 
 
MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1
 
Fibroblast
 
Skin, Unspecified
 
 
 
 
EHLERS-DANLOS SYNDROME, TYPE II; EDS2 | COLLAGEN, TYPE V, ALPHA-1; COL5A1
 
LCL
 
B-Lymphocyte
 
 
 
 
EHLERS-DANLOS SYNDROME, TYPE II; EDS2 | COLLAGEN, TYPE V, ALPHA-1; COL5A1
 
Fibroblast
 
Skin, Arm
 
 
 
 
TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 (LANGER-GIEDION SYNDROME; LGS) | CHROMOSOME DELETION | COPY NUMBER VARIATION (CNV) REFERENCE PANEL
 
LCL
 
B-Lymphocyte
 
 
 
 
TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 (LANGER-GIEDION SYNDROME; LGS) | CHROMOSOME DELETION | COPY NUMBER VARIATION (CNV) REFERENCE PANEL
 
DNA
 
LCL
 
 
 
 
SCHWARTZ-JAMPEL SYNDROME; SJS
 
Fibroblast
 
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
B-Lymphocyte
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
B-Lymphocyte
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
Fibroblast
 
 
 
 
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME | DNA METHYLTRANSFERASE 3B; DNMT3B | APPARENTLY HEALTHY INDIVIDUAL
 
DNA
 
LCL
 
 
 
 
SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME
 
Fibroblast
 

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