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1. ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

2. Agile Technical Practices Distilled : A Learning Journey in Technical Practices and Principles of Software Design

3. Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions

4. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

5. Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

6. Genetic and Functional Characterization of ANGPTL7 as a Therapeutic Target for Glaucoma

7. The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

8. Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

9. 24. WHOLE EXOME SEQUENCING META-ANALYSIS OF DEPRESSION SUGGESTS SUBTLE ROLE FOR FUNCTIONAL VARIANTS IN KNOWN GENETIC ASSOCIATION LOCI

10. DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders

11. Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans

12. Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

13. Recurrent Rare Copy Number Variants Increase Risk for Esotropia

14. Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies

15. Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network

16. Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations

17. Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

18. Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome

19. FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies

20. Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa

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