12 results on '"Elias, Ellen R."'
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2. IRF2BPL gene mutation: Expanding on neurologic phenotypes
3. The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?
4. Shprintzen-Goldberg Syndrome With Tetralogy of Fallot and Subvalvar Aortic Stenosis
5. An Interesting Case of Infant Sudden Death: Severe Hypertrophic Cardiomyopathy in Pompe's Disease
6. Fetal Smith‐Lemli‐Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols
7. New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia
8. Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial
9. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)
10. Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant
11. Physical findings in 21q22 deletion suggest critical region for 21q— phenotype in q22
12. The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?
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