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MetabolomicsGNPS - Undiagnosed Disease Network Study Results, Urine lipidomics and metabolomics
The deposited data were collected from 148 patients and 133 family members accepted into the Undiagnosed Diseases Network (https://undiagnosed.hms.harvard.edu/). The NIH Common Fund Undiagnosed Diseases Network (UDN) seeks to provide diagnoses for individuals with undiagnosed disease. Here, we repo...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2019-12-17 | MSV000084717 | GNPS
MetabolomicsGNPS - Undiagnosed Disease Network Study Results, Plasma lipidomics and metabolomics
The deposited data were collected from 148 patients and 133 family members accepted into the Undiagnosed Diseases Network (https://undiagnosed.hms.harvard.edu/). The NIH Common Fund Undiagnosed Diseases Network (UDN) seeks to provide diagnoses for individuals with undiagnosed disease. Here, we repo...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2019-12-17 | MSV000084716 | GNPS
MetabolomicsGNPS - Undiagnosed Disease Network Study Results, CSF lipidomics and metabolomics
The deposited data were collected from 148 patients and 133 family members accepted into the Undiagnosed Diseases Network (https://undiagnosed.hms.harvard.edu/). The NIH Common Fund Undiagnosed Diseases Network (UDN) seeks to provide diagnoses for individuals with undiagnosed disease. Here, we repo...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2019-12-17 | MSV000084715 | GNPS
MetabolomicsGNPS - Undiagnosed Disease Network Study Results, CSF lipidomics and metabolomics
The deposited data were collected from 148 patients and 133 family members accepted into the Undiagnosed Diseases Network (https://undiagnosed.hms.harvard.edu/). The NIH Common Fund Undiagnosed Diseases Network (UDN) seeks to provide diagnoses for individuals with undiagnosed disease. Here, we repor...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2020-05-29 | MSV000085506 | GNPS
MetabolomicsGNPS - Undiagnosed Disease Network Study Results, Plasma lipidomics and metabolomics
The deposited data were collected from 148 patients and 133 family members accepted into the Undiagnosed Diseases Network (https://undiagnosed.hms.harvard.edu/). The NIH Common Fund Undiagnosed Diseases Network (UDN) seeks to provide diagnoses for individuals with undiagnosed disease. Here, we repor...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2020-05-29 | MSV000085508 | GNPS
UnknownA Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Not available
S-EPMC5294886 | biostudies-literature
UnknownBi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Not available
S-EPMC6408318 | biostudies-literature
UnknownPartial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Not available
S-EPMC6925349 | biostudies-literature
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