E-LIB Suche - Ergebnisse für: Pajusalu, Sander

1

Human skeletal myopathy myosin mutations disrupt myosin hea..:

Carrington, Glenn ; Hau, Abbi ; Kosta, Sarah...
info:eu-repo/semantics/altIdentifier/doi/10.1172/jci.insight.172322. , 2023

Link: https://hal.science/hal-..

2

Human skeletal myopathy myosin mutations disrupt myosin hea..:

Carrington, Glenn ; Hau, Abbi ; Kosta, Sarah...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10721271/. , 2023

Link: http://www.ncbi.nlm.nih...

3

Human Skeletal myopathy myosin mutations disrupt myosin hea..:

Carrington, Glenn ; Hau, Hoi Ting Abbi ; Kosta, Sarah...
https://discovery.ucl.ac.uk/id/eprint/10178305/1/172322.2-20231019160721-covered-e0fd13ba177f913fd3156f593ead4cfd.pdf. , 2023

Link: https://discovery.ucl.ac..

4

Exome copy number variant detection, analysis and classific..:

Lemire, Gabrielle ; Sanchis-Juan, Alba ; Russell, Kathryn...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593084/. , 2023

Link: http://www.ncbi.nlm.nih...

5

Impaired protein hydroxylase activity causes replication st..:

Fletcher, Sally C ; Hall, Charlotte ; Kennedy, Tristan J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10065073/. , 2023

Link: http://www.ncbi.nlm.nih...

6

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

Ilves, Norman ; Pajusalu, Sander ; Kahre, Tiina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10467006/. , 2023

Link: http://www.ncbi.nlm.nih...

7

Human skeletal myopathy myosin mutations disrupt myosin hea..:

Carrington, Glenn ; Hau, Abbi ; Kosta, Sarah...
info:eu-repo/semantics/altIdentifier/doi/10.1172/jci.insight.172322. , 2023

Link: https://hal.science/hal-..

8

Human skeletal myopathy myosin mutations disrupt myosin hea..:

Carrington, Glenn ; Hau, Abbi ; Kosta, Sarah...
info:eu-repo/semantics/altIdentifier/doi/10.1172/jci.insight.172322. , 2023

Link: https://hal.science/hal-..

9

De novo putative loss-of-function variants in TAF4 are asso..:

Janssen, Beau D.E ; van den Boogaard, Marie-Jose H ; Lichtenbelt, Klaske...
https://eprints.soton.ac.uk/468915/1/Manuscript_TAF4_Revised2.docx. , 2022

Link: https://eprints.soton.ac..

10

De novo putative loss‐of‐function variants in TAF4 are asso..:

Janssen, Beau D. E ; van den Boogaard, Marie‐Jose H ; Lichtenbelt, Klaske...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10087332/. , 2022

Link: http://www.ncbi.nlm.nih...

11

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

Micule, Ieva ; Lace, Baiba ; Wright, Nathan T...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8864118/. , 2022

Link: http://www.ncbi.nlm.nih...

12

The prevalence of inherited metabolic disorders in Estonian..:

Tiivoja, Elis ; Reinson, Karit ; Muru, Kai...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626666/. , 2022

Link: http://www.ncbi.nlm.nih...

13

Monogenic Versus Multifactorial Inheritance in the Developm..:

Lace, Baiba ; Pajusalu, Sander ; Livcane, Diana...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8907258/. , 2022

Link: http://www.ncbi.nlm.nih...

14

Truncating SRCAP variants outside the Floating-Harbor syndr..:

Rots, Dmitrijs ; Chater-Diehl, Eric ; Dingemans, Alexander J.M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8206150/. , 2021

Link: http://www.ncbi.nlm.nih...

15

The Estimated Prevalence of N-Linked Congenital Disorders o..:

Pajusalu, Sander ; Vals, Mari-Anne ; Mihkla, Laura...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8383291/. , 2021

Link: http://www.ncbi.nlm.nih...