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Perinatal Care Measures Are Incomplete If They Do Not Assess The Birth Parent-Infant Dyad As A Whole.
Not available
S-EPMC10901240
|
biostudies-literature
Cite
Combinatorial modulation of protein prenylation.
Not available
S-EPMC2922964
|
biostudies-literature
Cite
IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Not available
S-EPMC6565556
|
biostudies-literature
Cite
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Not available
S-EPMC6117612
|
biostudies-literature
Cite
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
Cite
A communal catalogue reveals Earth's multiscale microbial diversity.
Not available
S-EPMC6192678
|
biostudies-literature
Cite
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Not available
S-EPMC6295275
|
biostudies-literature
Cite
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Not available
S-EPMC5223093
|
biostudies-literature
Cite
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Not available
S-EPMC6323608
|
biostudies-literature
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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Not available
S-EPMC5851806
|
biostudies-literature
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