436 results on '"Birk, Ohad"'
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2. Heterozygous THBS2 pathogenic variant causes Ehlers–Danlos syndrome with prominent vascular features in humans and mice
3. VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19
4. Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy
5. X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome
6. IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
7. STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications
8. Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield
9. Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis
10. Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation
11. Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy
12. Looking for the skeleton in the closet—rare genetic diagnoses in patients with diabetes and skeletal manifestations
13. Web and social media searches highlight menstrual irregularities as a global concern in COVID-19 vaccinations
14. A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies
15. Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene
16. Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.
17. ZNF142 mutation causes sex-dependent neurologic disorder.
18. Hyperuricemia and gout caused by missense mutation in D-lactate dehydrogenase
19. Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report
20. DEGS1 variant causes neurological disorder
21. A role of BPTF in viral oncogenicity delineated through studies of heritable Kaposi sarcoma.
22. SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.
23. CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews
24. SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome
25. Association Analysis Identifies ZNF750 Regulatory Variants in Psoriasis
26. SMARCA4mutation causes human otosclerosis and a similar phenotype in mice
27. De‐novo “germline second hit” loss‐of‐heterozygosity RBP3 deletion mutation causing recessive high myopia
28. Asymptomatic Familial Hyperprolactinemia Caused by a Unique bi-Allelic Variant in the Prolactin-Receptor Gene
29. CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.
30. Familial Occurrence of Isolated Late-onset Nasolacrimal Duct Obstruction in Two Unrelated Families.
31. P079: A recurrent POT1 germline variant associated with early onset malignant melanoma, desmoid tumor and other malignancies
32. Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice‐site mutation.
33. The 60-kDa Heat Shock Protein Modulates Allograft Rejection
34. Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population
35. Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone
36. A Role of Hsp60 in Autoimmune Diabetes: Analysis in a Transgenic Model
37. ZNF142mutation causes sex-dependent neurologic disorder
38. SMARCA4mutation causes human otosclerosis and a similar phenotype in mice
39. Heterozygous THBS2pathogenic variant causes Ehlers–Danlos syndrome with prominent vascular features in humans and mice
40. Predicting molecular mechanisms of hereditary diseases by using their tissue‐selective manifestation.
41. Hyperinsulinism / hyperammonemia syndrome caused by biallelic SLC25A36 mutation
42. Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations
43. Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
44. Selenocysteinopathies
45. PSMC1variant causes a novel neurological syndrome
46. A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion
47. PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay
48. Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
49. Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred
50. X-linked C1GALT1C1mutation causes atypical hemolytic uremic syndrome
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