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1. Statistical Evaluation of ERG Responses: A New Method to Validate Cycle-by-Cycle Recordings in Advanced Retinal Degenerations.

2. SLC16A8 is a causal contributor to age-related macular degeneration risk

3. GM1 gangliosidosis type II: Results of a 10-year prospective study

4. Auditory and olfactory findings in patients with USH2A‐related retinal degeneration—Findings at baseline from the rate of progression in USH2A‐related retinal degeneration natural history study (RUSH2A)

5. Genotype–Phenotype Association in ABCA4-Associated Retinopathy

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

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

10. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

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

13. Intrathecal Gene Therapy for Giant Axonal Neuropathy

14. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

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

17. Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

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

20. Defining the clinical phenotype of Saul–Wilson syndrome

21. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

22. Cone Responses in Usher Syndrome Types 1 and 2 by Microvolt ElectroretinographyCone ERGs in Usher Syndrome

23. OUTER RETINAL MICROCAVITATIONS IN RETINITIS PIGMENTOSA

24. CNGB3-Achromatopsia Clinical Trial With CNTF: Diminished Rod Pathway Responses With No Evidence of Improvement in Cone Function CNGB3-Achromatopsia Clinical Trial With CNTF

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

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

27. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

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

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

31. 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

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

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

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

41. Defective ciliogenesis in INPP5E‐related Joubert syndrome

42. Cover Image, Volume 173A, Number 12, December 2017

44. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

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

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

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

48. Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome

50. Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies

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