E-LIB Suche - Ergebnisse für: Pekkinen, Minna

1

SGMS2 in primary osteoporosis with facial nerve palsy:

Pihlström, Sandra ; Richardt, Sampo ; Määttä, Kirsi...
Frontiers in Endocrinology. 14 (2023) - p. , 2023

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

2

Variation in the fibroblast growth factor 23 (FGF23) gene a..:

Enlund-Cerullo, Maria ; Holmlund-Suila, Elisa ; Valkama, Saara...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

3

A multi-omics study to characterize the transdifferentiatio..:

Pihlström, Sandra ; Määttä, Kirsi ; Öhman, Tiina...
Frontiers in Molecular Biosciences. 9 (2022) - p. , 2022

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

4

Targeted Exome Sequencing of Genes Involved in Rare CNVs in..:

Loid, Petra ; Pekkinen, Minna ; Mustila, Taina...
Frontiers in Genetics. 13 (2022) - p. , 2022

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

5

Osteogenically differentiated human fibroblasts – an altern..:

Pihlström, Sandra ; Määttä, Kirsi ; Mäkitie, Riikka...
Bone Reports. 16 (2022) - p. 101391 , 2022

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

6

A novel IFITM5 variant associates with phenotype of osteopo..:

Mäkitie, Riikka ; Pekkinen, Minna ; Morisada, Naoya...
Bone Reports. 14 (2021) - p. 100850 , 2021

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

7

AnARHGAP25variant links aberrantRac1function to early‐onset..:

Mäkitie, Riikka E. ; Henning, Petra ; Jiu, Yaming...
JBMR Plus. 5 (2021) 7 - p. , 2021

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

8

Abnormal Bone Tissue Organization and Osteocyte Lacunocanal..:

Mäkitie, Riikka E. ; Blouin, Stéphane ; Välimäki, Ville‐Valtteri...
JBMR Plus. 5 (2021) 11 - p. , 2021

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

9

Phosphate Concentrations and Modifying Factors in Healthy C..:

Koljonen, Laura ; Enlund-Cerullo, Maria ; Hauta-alus, Helena...
The Journal of Clinical Endocrinology & Metabolism. 106 (2021) 10 - p. 2865-2875 , 2021

Link: https://doi.org/10.1210/..

10

A new family with epiphyseal chondrodysplasia type Miura:

Kenis, Vladimir ; Melchenko, Eugeniy ; Mazunin, Ilya..
American Journal of Medical Genetics Part A. 185 (2020) 1 - p. 112-118 , 2020

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

11

Severe Phenotype of APECED (APS1) Increases Risk for Struct..:

Laakso, Saila ; Borchers, Joonatan ; Toiviainen-Salo, Sanna..
Frontiers in Endocrinology. 11 (2020) - p. , 2020

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

12

GNAS, PDE4D, and PRKAR1A Mutations and GNAS Methylation Cha..:

Loid, Petra ; Pekkinen, Minna ; Reyes, Monica...
Frontiers in Pediatrics. 8 (2020) - p. , 2020

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

13

Biallelic KIF24 Variants Are Responsible for a Spectrum of ..:

Reilly, Madeline Louise ; Ain, Noor ul ; Muurinen, Mari...
Journal of Bone and Mineral Research. 37 (2020) 9 - p. 1642-1652 , 2020

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

14

Rare Variants in Genes Linked to Appetite Control and Hypot..:

Loid, Petra ; Mustila, Taina ; Mäkitie, Riikka E....
Frontiers in Endocrinology. 11 (2020) - p. , 2020

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

15

Osteoporosis and skeletal dysplasia caused by pathogenic va..:

Pekkinen, Minna ; Terhal, Paulien A. ; Botto, Lorenzo D....
JCI Insight. 4 (2019) 7 - p. , 2019

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