Pajusalu S - Search Results

1

Human skeletal myopathy myosin mutations disrupt myosin head sequestration.

Carrington G, Hau A, Kosta S, Dugdale HF, Muntoni F, D'Amico A, Van den Bergh P, Romero NB, Malfatti E, Vilchez JJ, Oldfors A, Pajusalu S, Õunap K, Giralt-Pujol M, Zanoteli E, Campbell KS, Iwamoto H, Peckham M, Ochala J. Carrington G, et al. Among authors: pajusalu s. JCI Insight. 2023 Nov 8;8(21):e172322. doi: 10.1172/jci.insight.172322. JCI Insight. 2023. PMID: 37788100 Free PMC article.

2

Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome.

Pajusalu S, Reimand T, Õunap K. Pajusalu S, et al. Am J Med Genet A. 2015 Aug;167A(8):1913-5. doi: 10.1002/ajmg.a.37105. Epub 2015 Apr 5. Am J Med Genet A. 2015. PMID: 25847626

3

An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.

Õunap K, Pajusalu S, Zilina O, Reimand T, Žordania R. Õunap K, et al. Among authors: pajusalu s. Clin Case Rep. 2016 Jul 22;4(8):824-30. doi: 10.1002/ccr3.632. eCollection 2016 Aug. Clin Case Rep. 2016. PMID: 27525095 Free PMC article.

4

Three families with mild PMM2-CDG and normal cognitive development.

Vals MA, Morava E, Teeäär K, Zordania R, Pajusalu S, Lefeber DJ, Õunap K. Vals MA, et al. Among authors: pajusalu s. Am J Med Genet A. 2017 Jun;173(6):1620-1624. doi: 10.1002/ajmg.a.38235. Epub 2017 Apr 19. Am J Med Genet A. 2017. PMID: 28425223 Free PMC article.

5

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.

Vals MA, Pajusalu S, Kals M, Mägi R, Õunap K. Vals MA, et al. Among authors: pajusalu s. JIMD Rep. 2018;39:13-17. doi: 10.1007/8904_2017_41. Epub 2017 Jul 7. JIMD Rep. 2018. PMID: 28685491 Free PMC article.

6

Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases.

Ridnõi K, Kurvinen E, Pajusalu S, Reimand T, Õunap K. Ridnõi K, et al. Among authors: pajusalu s. Mol Syndromol. 2018 Jul;9(4):205-213. doi: 10.1159/000490083. Epub 2018 Jun 8. Mol Syndromol. 2018. PMID: 30158844 Free PMC article.

7

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.

Yakoreva M, Kahre T, Pajusalu S, Ilisson P, Žilina O, Tillmann V, Reimand T, Õunap K. Yakoreva M, et al. Among authors: pajusalu s. Mol Syndromol. 2018 Jul;9(4):182-189. doi: 10.1159/000489446. Epub 2018 May 18. Mol Syndromol. 2018. PMID: 30181735 Free PMC article.

8

FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.

Muru K, Reinson K, Künnapas K, Lilleväli H, Nochi Z, Mosegaard S, Pajusalu S, Olsen RKJ, Õunap K. Muru K, et al. Among authors: pajusalu s. Mol Genet Genomic Med. 2019 Sep;7(9):e915. doi: 10.1002/mgg3.915. Epub 2019 Aug 8. Mol Genet Genomic Med. 2019. PMID: 31392824 Free PMC article.

9

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.

Pajusalu S, Vals MA, Mihkla L, Šamarina U, Kahre T, Õunap K. Pajusalu S, et al. Front Genet. 2021 Aug 10;12:719437. doi: 10.3389/fgene.2021.719437. eCollection 2021. Front Genet. 2021. PMID: 34447415 Free PMC article.

10

The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.

Tiivoja E, Reinson K, Muru K, Rähn K, Muhu K, Mauring L, Kahre T, Pajusalu S, Õunap K. Tiivoja E, et al. Among authors: pajusalu s. JIMD Rep. 2022 Aug 24;63(6):604-613. doi: 10.1002/jmd2.12325. eCollection 2022 Nov. JIMD Rep. 2022. PMID: 36341167 Free PMC article.

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

72 results

Search Page

Filters