48 results on '"Eskin-Schwartz, Marina"'
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2. VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19
3. Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy
4. X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome
5. Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield
6. Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation
7. Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma
8. A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies
9. ZNF142 mutation causes sex-dependent neurologic disorder.
10. Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas
11. Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
12. Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
13. CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews
14. Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4
15. Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A
16. Asymptomatic Familial Hyperprolactinemia Caused by a Unique bi-Allelic Variant in the Prolactin-Receptor Gene
17. CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.
18. P079: A recurrent POT1 germline variant associated with early onset malignant melanoma, desmoid tumor and other malignancies
19. Mycophenolate Mofetil for the Management of Autoimmune Bullous Diseases
20. ZNF142mutation causes sex-dependent neurologic disorder
21. Heterozygous THBS2pathogenic variant causes Ehlers–Danlos syndrome with prominent vascular features in humans and mice
22. Hyperinsulinism / hyperammonemia syndrome caused by biallelic SLC25A36 mutation
23. Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
24. Immunosuppressive Drugs, Immunophilins, and Functional Expression of NCX Isoforms
25. ESDR259 - KLF4 variants: a novel cause of palmoplantar keratoderma
26. PSMC1variant causes a novel neurological syndrome
27. Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
28. X-linked C1GALT1C1mutation causes atypical hemolytic uremic syndrome
29. Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center
30. Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
31. Mycophenolate Mofetil for the Management of Autoimmune Bullous Diseases
32. TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews
33. Acute Respiratory Distress Syndrome in a Carrier of an Interleukin-36 Receptor Antagonist Mutation With Generalized Pustular Psoriasis
34. Somatic Mosaicism for a “Lethal” GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement
35. PSMC1 variant causes a novel neurological syndrome.
36. Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population
37. Immunosuppressive Drugs, Immunophilins, and Functional Expression of NCX Isoforms
38. Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy
39. Loss-of-function variants in KLF4underlie autosomal dominant palmoplantar keratoderma
40. Acute Respiratory Distress Syndrome in a Carrier of an Interleukin-36 Receptor Antagonist Mutation With Generalized Pustular Psoriasis
41. Interventions for the prevention of recurrent erysipelas and cellulitis
42. Epidermolytic Ichthyosis Sine Epidermolysis
43. Somatic Mosaicism for a “Lethal”GJB2Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement
44. Mycophenolate Mofetil for the Management of Autoimmune Bullous Diseases
45. Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis.
46. Recurrent Flexural Pellagroid Dermatitis: An Unusual Variant of Irritant Contact Dermatitis.
47. Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway.
48. [MULTIPLE CAFÉ-AU-LAIT MACULES AND INTERTRIGINOUS FRECKLING: BEYOND THE RASOPATHIES].
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