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Batkovskyte, Dominyka
10
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1
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/..
?
2
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/..
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3
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/..
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4
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/..
?
5
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/..
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6
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/..
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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/..
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