Predictors of Psychomotor Developmental Delay Among Under-Five Children With Severe Acute Malnutrition in a Food Insecure Setting in DRC: Exploratory Analysis of Children From EfRAMAS Trial. [PDF]
Ntaongo Alendi J +9 more
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Microcephaly, seizures and developmental delay caused by two novel mutations in the <i>PNKP</i> gene: a case report. [PDF]
Liu M +7 more
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COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report. [PDF]
Granger K +6 more
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Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability. [PDF]
Xu J, Xu Y, Su W, Chen L, Wang Y, Li H.
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Expanding the spectrum of Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) syndrome: a case report with new clinical insights and novel genetic variant. [PDF]
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Episodic Ataxia Associated With Synaptosomal-Associated Protein 25 (SNAP25) Variant: Beyond Epilepsy and Developmental Delay. [PDF]
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