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UnknownBOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension.
Not available
S-EPMC6519484 | biostudies-literature
UnknownGenetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Not available
S-EPMC4392068 | biostudies-literature
UnknownMutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
Not available
S-EPMC5392243 | biostudies-literature
UnknownLarge-scale discovery of novel genetic causes of developmental disorders.
Not available
S-EPMC5955210 | biostudies-literature
UnknownFinding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Not available
S-EPMC6848993 | biostudies-literature
UnknownGenomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Not available
S-EPMC7614484 | biostudies-literature
UnknownPrevalence and architecture of de novo mutations in developmental disorders.
Not available
S-EPMC6016744 | biostudies-literature
UnknownNot all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.
Not available
S-EPMC5589790 | biostudies-literature
UnknownHistone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Not available
S-EPMC5778085 | biostudies-literature
UnknownCHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Not available
S-EPMC6218476 | biostudies-literature
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