11 results on '"Aten, Emmelien"'
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2. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
3. The prevalence of genetic diagnoses in fetuses with severe congenital heart defects
4. From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care
5. Putting genome-wide sequencing in neonates into perspective
6. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
7. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder
8. Correction: Putting genome-wide sequencing in neonates into perspective
9. Response to Thibodeau and Langlois
10. Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene
11. Imprinting: the Achilles heel of trio-based exome sequencing
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