E-LIB Suche - Ergebnisse für: Pajusalu, Sander

1

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a r..:

Donkervoort, Sandra ; Mohassel, Payam ; O'Leary, Melanie...
Annals of Clinical and Translational Neurology. 11 (2024) 3 - p. 629-640 , 2024

Link: https://doi.org/10.1002/..

2

The phenotypic spectrum of PTCD3 deficiency:

Lace, Baiba ; Faqeih, Eissa ; Kaya, Namik...
JIMD Reports. , 2024

Link: https://doi.org/10.1002/..

3

Human skeletal myopathy myosin mutations disrupt myosin hea..:

Carrington, Glenn ; Hau, Abbi ; Kosta, Sarah...
JCI Insight. 8 (2023) 21 - p. , 2023

Link: https://doi.org/10.1172/..

4

Impaired protein hydroxylase activity causes replication st..:

Fletcher, Sally C. ; Hall, Charlotte ; Kennedy, Tristan J....
Journal of Clinical Investigation. 133 (2023) 7 - p. , 2023

Link: https://doi.org/10.1172/..

5

High Prevalence of Collagenopathies in Preterm- and Term-Bo..:

Ilves, Norman ; Pajusalu, Sander ; Kahre, Tiina...
Journal of Child Neurology. 38 (2023) 6-7 - p. 373-388 , 2023

Link: https://doi.org/10.1177/..

6

Bi-allelic loss-of-function variants in WBP4, encoding a sp..:

Engal, Eden ; Oja, Kaisa Teele ; Maroofian, Reza...
The American Journal of Human Genetics. 110 (2023) 12 - p. 2112-2119 , 2023

Link: https://doi.org/10.1016/..

7

The Prevalence and Molecular Landscape of Lynch Syndrome in..:

Roht, Laura ; Laidre, Piret ; Tooming, Mikk...
Cancers. 15 (2023) 14 - p. 3663 , 2023

Link: https://doi.org/10.3390/..

8

P452: Specifying the ACMG/AMP variant sequence interpretati..:

DiStefano, Marina ; Webb, Ryan ; McCurry, Hannah...
Genetics in Medicine Open. 1 (2023) 1 - p. 100499 , 2023

Link: https://doi.org/10.1016/..

9

Case Report: Two Families With HPDL Related Neurodegenerati..:

Micule, Ieva ; Lace, Baiba ; Wright, Nathan T....
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

10

The prevalence of inherited metabolic disorders in Estonian..:

Tiivoja, Elis ; Reinson, Karit ; Muru, Kai...
JIMD Reports. 63 (2022) 6 - p. 604-613 , 2022

Link: https://doi.org/10.1002/..

11

Monogenic Versus Multifactorial Inheritance in the Developm..:

Lace, Baiba ; Pajusalu, Sander ; Livcane, Diana...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

12

De novo putative loss‐of‐function variants inTAF4are associ..:

Janssen, Beau D. E. ; van den Boogaard, Marie‐Jose H. ; Lichtenbelt, Klaske...
Human Mutation. 43 (2022) 12 - p. 1844-1851 , 2022

Link: https://doi.org/10.1002/..

13

CAPN3c.1746‐20C>G variant is hypomorphic for LGMD R1 calpai..:

Mroczek, Magdalena ; Inashkina, Inna ; Stavusis, Janis...
Human Mutation. 43 (2022) 10 - p. 1347-1353 , 2022

Link: https://doi.org/10.1002/..

14

More than a fancy exome: unique capabilities of genome sequ..:

Wojcik, Monica ; Chao, Katherine ; Goodrich, Julia...
Molecular Genetics and Metabolism. 132 (2021) - p. S88 , 2021

Link: https://doi.org/10.1016/..

15

A two‐year prospective study assessing the performance of f..:

Ridnõi, Konstantin ; Muru, Kai ; Keernik, Maria...
Molecular Genetics & Genomic Medicine. 9 (2021) 10 - p. , 2021

Link: https://doi.org/10.1002/..