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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Not available
S-EPMC7447524
|
biostudies-literature
Cite
The Forest Observation System, building a global reference dataset for remote sensing of forest biomass.
Not available
S-EPMC6787017
|
biostudies-literature
Cite
Tree mode of death and mortality risk factors across Amazon forests.
Not available
S-EPMC7652827
|
biostudies-literature
Cite
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Not available
S-EPMC6817525
|
biostudies-literature
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Hyperdominance in Amazonian forest carbon cycling.
Not available
S-EPMC4423203
|
biostudies-literature
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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Not available
S-EPMC6117612
|
biostudies-literature
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Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Not available
S-EPMC8222855
|
biostudies-literature
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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Not available
S-EPMC5294886
|
biostudies-literature
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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Not available
S-EPMC6408318
|
biostudies-literature
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A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.
Not available
S-EPMC8060404
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biostudies-literature
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