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12 results on '"Machado, Rajiv"'

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1. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

2. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

3. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

4. Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

5. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

6. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

7. Genetics and Genomics of Pulmonary Arterial Hypertension

8. Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

9. Genetics and Genomics of Pulmonary Arterial Hypertension

10. BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension

11. A Physical and Transcript Map Based upon Refinement of the Critical Interval for PPH1, a Gene for Familial Primary Pulmonary Hypertension

12. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

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