E-LIB Suche - Ergebnisse für: Batkovskyte, Dominyka

1

The IFITM5 mutation in osteogenesis imperfecta type V is as..:

Marom, Ronit ; Song, I-Wen ; Busse, Emily C....
Journal of Clinical Investigation. , 2024

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

2

The level of protein in the maternal murine diet modulates ..:

Xie, Meng ; Kaiser, Markéta ; Gershtein, Yaakov...
Nature Communications. 15 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

3

Clinical, genetic and structural delineation of RPL13-relat..:

Jacob, Prince ; Lindelöf, Hillevi ; Rustad, Cecilie F....
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

4

Compound heterozygous variants in RAB34 in a rare skeletal ..:

Batkovskyte, Dominyka ; Komatsu, Maya ; Hammarsjö, Anna...
Clinical Genetics. 105 (2023) 1 - p. 87-91 , 2023

Link: https://doi.org/10.1111/..

5

Case report: Extending the spectrum of clinical and molecul..:

Garza Flores, Alexandra ; Nordgren, Ida ; Pettersson, Maria...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

6

A hypomorphic variant in the translocase of the outer mitoc..:

Young, Cameron ; Batkovskyte, Dominyka ; Kitamura, Miyuki...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100148 , 2023

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

7

Expanding the mutation and phenotype spectrum of MYH3-assoc..:

Zhao, Sen ; Zhang, Yuanqiang ; Hallgrimsdottir, Sigrun...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

8

High diagnostic yield in skeletal ciliopathies using massiv..:

Hammarsjö, Anna ; Pettersson, Maria ; Chitayat, David...
Journal of Human Genetics. 66 (2021) 10 - p. 995-1008 , 2021

Link: https://doi.org/10.1038/..

9

Absence of GP130 cytokine receptor signaling causes extende..:

Chen, Yin-Huai ; Grigelioniene, Giedre ; Newton, Phillip T....
Journal of Experimental Medicine. 217 (2020) 3 - p. , 2020

Link: https://doi.org/10.1084/..

10

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ..:

Batkovskyte, Dominyka ; McKenzie, Fiona ; Taylan, Fulya...
Journal of Bone and Mineral Research. 38 (2020) 5 - p. 692-706 , 2020

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

11

Expanding the mutation and phenotype spectrum of MYH3-assoc..:

Zhao, Sen ; Zhang, Yuanqiang ; Hallgrimsdottir, Sigrun...
, 2022, 7:1,. , 2022

Link: http://urn.kb.se/resolve..

12

A hypomorphic variant in the translocase of the outer mitoc..:

Young, Cameron ; Batkovskyte, Dominyka ; Kitamura, Miyuki...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589026/. , 2022

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

13

COPB2 loss of function causes a coatopathy with osteoporosi..:

Marom, Ronit ; Burrage, Lindsay C ; Venditti, Rossella...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8456174/. , 2021

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

14

Absence of GP130 cytokine receptor signaling causes extende..:

Chen, Yin-Huai ; Grigelioniene, Giedre ; Newton, Phillip T...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7062520/. , 2020

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

15

Case report: Extending the spectrum of clinical and molecul..:

Alexandra Garza Flores ; Ida Nordgren ; Maria Pettersson...
https://www.frontiersin.org/articles/10.3389/fgene.2023.1174046/full. , 2023

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