Search

Your search keyword '"Zein, Wadih"' showing total 108 results

Search Constraints

Start Over You searched for: Author "Zein, Wadih" Remove constraint Author: "Zein, Wadih" Database Unpaywall Remove constraint Database: Unpaywall
108 results on '"Zein, Wadih"'

Search Results

2. GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

3. Intrathecal Gene Therapy for Giant Axonal Neuropathy

4. GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

5. The qMini assay identifies an overlooked class of splice variants

6. RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15

7. Trisomy 8-associated Autoinflammatory Disease (TRIAD) is Characterized by Dysregulated Myeloid Cells

9. Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy

10. Supplementary Methods, Figures 1-3, Tables 1-5 from A Phase I Study of PF-04929113 (SNX-5422), an Orally Bioavailable Heat Shock Protein 90 Inhibitor, in Patients with Refractory Solid Tumor Malignancies and Lymphomas

11. Supplementary Methods, Figures 1-3, Tables 1-5 from A Phase I Study of PF-04929113 (SNX-5422), an Orally Bioavailable Heat Shock Protein 90 Inhibitor, in Patients with Refractory Solid Tumor Malignancies and Lymphomas

12. Variants ofLRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy

13. Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia

18. Structural integrity of retinal pigment epithelial cells in eyes with age-related scattered hypofluorescent spots on late phase indocyanine green angiography (ASHS-LIA)

19. Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics

20. Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging

21. Gain-of-function mutations inALPK1cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

22. Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome

23. Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies

24. ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

25. Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis

26. Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates

27. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

28. Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome

30. Author response: Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome

31. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

33. AAPOS Genetic Eye Disease Committee Workshop—hiding in plain sight: genetic disorders in routine pediatric practice

35. Severity modeling of propionic acidemia using clinical and laboratory biomarkers

37. Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome

38. Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

39. Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort

40. Potential therapy for progressive vision loss due to PCDH15-associated Usher Syndrome developed in an orthologous Usher mouse

42. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

43. Newborn screening and optimized hydroxocobalamin and dietary therapy lead to improved neurocognitive outcomes in early onset cobalamin C deficiency

44. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

49. Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome

Catalog

Books, media, physical & digital resources