E-LIB Suche - Ergebnisse für: Valta, Helena

1

Genetic spectrum of prenatally diagnosed skeletal dysplasia..:

Rajala, Katri ; Kasanen, Ellamaija ; Toiviainen‐Salo, Sanna...
Prenatal Diagnosis. 42 (2022) 12 - p. 1525-1537 , 2022

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

2

Positive airway pressure therapy for obstructive sleep apne..:

Arponen, Heidi ; Bachour, Adel ; Bäck, Leif...
BMC Musculoskeletal Disorders. 22 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

3

Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1,..:

Costantini, Alice ; Valta, Helena ; Suomi, Anne-Maarit..
Frontiers in Genetics. 12 (2021) - p. , 2021

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

4

Novel RPL13 Variants and Variable Clinical Expressivity in ..:

Costantini, Alice ; Alm, Jessica J ; Tonelli, Francesca...
Journal of Bone and Mineral Research. 36 (2020) 2 - p. 283-297 , 2020

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

5

Novel RPL13 variants and evidence for incomplete penetrance..:

Costantini, Alice ; Alm, Jessica J. ; Tonelli, Francesca...
Bone Reports. 13 (2020) - p. 100647 , 2020

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

6

Novel fibronectin mutations and expansion of the phenotype ..:

Costantini, Alice ; Valta, Helena ; Baratang, Nissan Vida...
Bone. 121 (2019) - p. 163-171 , 2019

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

7

Novel variants in natriuretic peptide receptor 2 in unrelat..:

Ain, Noor ul ; Iqbal, Muddassar ; Valta, Helena...
European Journal of Medical Genetics. 62 (2019) 9 - p. 103554 , 2019

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

8

Is sleep apnea underdiagnosed in adult patients with osteog..:

Arponen, Heidi ; Bachour, Adel ; Bäck, Leif...
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

9

A Wide Spectrum of Autoimmune Manifestations and Other Symp..:

Vakkilainen, Svetlana ; Mäkitie, Riikka ; Klemetti, Paula...
Frontiers in Immunology. 9 (2018) - p. , 2018

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

10

Polyostotic Fibrous Dysplasia With and Without McCune–Albri..:

Utriainen, Pauliina ; Valta, Helena ; Björnsdottir, Sigridur..
Frontiers in Endocrinology. 9 (2018) - p. , 2018

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

11

Fatigue and disturbances of sleep in patients with osteogen..:

Arponen, Heidi ; Waltimo-Sirén, Janna ; Valta, Helena.
BMC Musculoskeletal Disorders. 19 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

12

Bisphosphonate Treatment and the Characteristics of Femoral..:

Vuorimies, Ilkka ; Mäyränpää, Mervi K. ; Valta, Helena...
The Journal of Clinical Endocrinology & Metabolism. 102 (2017) 4 - p. 1333-1339 , 2017

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

13

High prevalence of bronchiectasis in patients with cartilag..:

Kostjukovits, Svetlana ; Klemetti, Paula ; Föhr, Anna...
Journal of Allergy and Clinical Immunology. 139 (2017) 1 - p. 375-378 , 2017

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

14

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasi:

Biggs, Catherine M. ; Kostjukovits, Svetlana ; Dobbs, Kerry...
Journal of Clinical Immunology. 37 (2017) 6 - p. 508-510 , 2017

Link: https://doi.org/10.1007/..

15

Analysis of clinical and immunologic phenotype in a large c..:

Kostjukovits, Svetlana ; Klemetti, Paula ; Valta, Helena...
Journal of Allergy and Clinical Immunology. 140 (2017) 2 - p. 612-614.e5 , 2017

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