Yosovich K - Search Results

1

Brain white matter abnormalities associated with copy number variants.

Vigdorovich N, Ben-Sira L, Blumkin L, Precel R, Nezer I, Yosovich K, Cross Z, Vanderver A, Lev D, Lerman-Sagie T, Zerem A. Vigdorovich N, et al. Among authors: yosovich k. Am J Med Genet A. 2020 Jan;182(1):93-103. doi: 10.1002/ajmg.a.61389. Epub 2019 Oct 17. Am J Med Genet A. 2020. PMID: 31622028

2

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

Blumkin L, Lerman-Sagie T, Lev D, Yosovich K, Leshinsky-Silver E. Blumkin L, et al. Among authors: yosovich k. J Neurol Sci. 2011 Jun 15;305(1-2):67-70. doi: 10.1016/j.jns.2011.03.011. Epub 2011 Mar 25. J Neurol Sci. 2011. PMID: 21440262

3

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.

Blumkin L, Leshinsky-Silver E, Zerem A, Yosovich K, Lerman-Sagie T, Lev D. Blumkin L, et al. Among authors: yosovich k. JIMD Rep. 2014;12:103-7. doi: 10.1007/8904_2013_251. Epub 2013 Sep 19. JIMD Rep. 2014. PMID: 24048965 Free PMC article.

4

Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.

Leshinsky-Silver E, Ling J, Wu J, Vinkler C, Yosovich K, Bahar S, Yanoov-Sharav M, Lerman-Sagie T, Lev D. Leshinsky-Silver E, et al. Among authors: yosovich k. Neurogenetics. 2017 Jul;18(3):141-146. doi: 10.1007/s10048-017-0516-6. Epub 2017 Jun 15. Neurogenetics. 2017. PMID: 28620870

5

Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach.

Blumkin L, Lerman-Sagie T, Westenberger A, Ben-Pazi H, Zerem A, Yosovich K, Lev D. Blumkin L, et al. Among authors: yosovich k. Neuropediatrics. 2018 Aug;49(4):246-255. doi: 10.1055/s-0038-1645884. Epub 2018 May 25. Neuropediatrics. 2018. PMID: 29801190

6

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.

Sagie S, Lerman-Sagie T, Maljevic S, Yosovich K, Detert K, Chung SK, Rees MI, Lerche H, Lev D. Sagie S, et al. Among authors: yosovich k. Brain. 2018 Jul 1;141(7):e55. doi: 10.1093/brain/awy129. Brain. 2018. PMID: 29846532 No abstract available.

7

Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes.

Hady-Cohen R, Ben-Pazi H, Adir V, Yosovich K, Blumkin L, Lerman-Sagie T, Lev D. Hady-Cohen R, et al. Among authors: yosovich k. Eur J Paediatr Neurol. 2018 Nov;22(6):1133-1138. doi: 10.1016/j.ejpn.2018.07.003. Epub 2018 Jul 26. Eur J Paediatr Neurol. 2018. PMID: 30100179

8

Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca²⁺-Dependent Cyclic GMP Synthesis.

Wimberg H, Lev D, Yosovich K, Namburi P, Banin E, Sharon D, Koch KW. Wimberg H, et al. Among authors: yosovich k. Front Mol Neurosci. 2018 Sep 25;11:348. doi: 10.3389/fnmol.2018.00348. eCollection 2018. Front Mol Neurosci. 2018. PMID: 30319355 Free PMC article.

9

Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.

Birnbaum R, Yosha-Orpaz N, Yanoov-Sharav M, Kidron D, Gur H, Yosovich K, Lerman-Sagie T, Malinger G, Lev D. Birnbaum R, et al. Among authors: yosovich k. Am J Med Genet A. 2019 Jan;179(1):78-84. doi: 10.1002/ajmg.a.6. Epub 2018 Dec 4. Am J Med Genet A. 2019. PMID: 30513135

10

Metabolic stroke in a patient with bi-allelic OPA1 mutations.

Zerem A, Yosovich K, Rappaport YC, Libzon S, Blumkin L, Ben-Sira L, Lev D, Lerman-Sagie T. Zerem A, et al. Among authors: yosovich k. Metab Brain Dis. 2019 Aug;34(4):1043-1048. doi: 10.1007/s11011-019-00415-2. Epub 2019 Apr 10. Metab Brain Dis. 2019. PMID: 30972688

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

29 results

Search Page