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5. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

10. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

13. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

17. Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis.

21. TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

22. Enhancing Temozolomide (TMZ) chemosensitivity using CRISPR-dCas9-mediated downregulation of O6-methylguanine DNA methyltransferase (MGMT).

23. Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

24. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

30. Investigation of genetic variants causing Bardet–Biedl syndrome in Iranian families: Identification of a founder mutation in BBS2, p.T157T

39. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

41. Cardiogenic effects of characterized Geum urbanum extracts on adipose-derived human mesenchymal stem cells

45. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

49. The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis

50. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2variants in 15 novel individuals