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Your search keyword '"Sanchez‐Lara, Pedro A."' showing total 29 results

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1. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

2. A dyadic approach to the delineation of diagnostic entities in clinical genomics

3. Automated syndrome diagnosis by three-dimensional facial imaging

5. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

13. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

16. List of Contributors

17. Response to Hamosh et al.

19. eP291 - Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

25. Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases

27. Contributors

29. Contributors

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