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Misceo, Doriana
91
results:
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Online (91)
Mediatypes
Articles (Online) (47)
OpenAccess-fulltext (44)
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1
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV D..:
Misceo, Doriana
;
Strømme, Petter
;
Bitarafan, Fatemeh
...
Genes. 15 (2024) 4 - p. 500 , 2024
Link:
https://doi.org/10.3390/..
?
2
Variants of NAV3, a neuronal morphogenesis protein, cause i..:
Ghaffar, Amama
;
Akhter, Tehmeena
;
Strømme, Petter
...
Communications Biology. 7 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
3
A homozygous POLR1A variant causes leukodystrophy and affec..:
Misceo, Doriana
;
Lirussi, Lisa
;
Strømme, Petter
...
Brain. 146 (2023) 8 - p. 3513-3527 , 2023
Link:
https://doi.org/10.1093/..
?
4
Novel Loss of Function Variants in CENPF Including a Large ..:
Misceo, Doriana
;
Senaratne, Lokuliyanage Dona Samudita
;
Mero, Inger-Lise
...
Genes. 14 (2023) 11 - p. 1985 , 2023
Link:
https://doi.org/10.3390/..
?
5
DNA methylation episignature in Gabriele-de Vries syndrome:
Cherik, Florian
;
Reilly, Jack
;
Kerkhof, Jennifer
...
Genetics in Medicine. 24 (2022) 4 - p. 905-914 , 2022
Link:
https://doi.org/10.1016/..
?
6
ZBTB11 dysfunction: spectrum of brain abnormalities, bioche..:
Sumathipala, Dulika
;
Strømme, Petter
;
Fattahi, Zohreh
...
Brain. 145 (2022) 7 - p. 2602-2616 , 2022
Link:
https://doi.org/10.1093/..
?
7
Loss of CBY1 results in a ciliopathy characterized by featu..:
Epting, Daniel
;
Senaratne, Lokuliyange D. S.
;
Ott, Elisabeth
...
Human Mutation. 41 (2020) 12 - p. 2179-2194 , 2020
Link:
https://doi.org/10.1002/..
?
8
Sudden death in epilepsy and ectopic neurohypophysis in Jou..:
Sumathipala, Dulika
;
Strømme, Petter
;
Gilissen, Christian
...
BMC Medical Genetics. 21 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
9
STIM1 R304W in mice causes subgingival hair growth and an i..:
Gamage, Thilini H.
;
Lengle, Emma
;
Gunnes, Gjermund
...
Cell Calcium. 85 (2020) - p. 102110 , 2020
Link:
https://doi.org/10.1016/..
?
10
The expanding clinical phenotype of germlineABL1‐associated..:
Chen, Chun‐An
;
Crutcher, Emeline
;
Gill, Harinder
...
Human Mutation. 41 (2020) 10 - p. 1738-1744 , 2020
Link:
https://doi.org/10.1002/..
?
11
Biallelic variants in the RNA exosome gene EXOSC5 are assoc..:
Slavotinek, Anne
;
Misceo, Doriana
;
Htun, Stephanie
...
Human Molecular Genetics. 29 (2020) 13 - p. 2218-2239 , 2020
Link:
https://doi.org/10.1093/..
?
12
TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: U..:
Sumathipala, Dulika
;
Strømme, Petter
;
Gilissen, Christian
...
Pediatric Neurology. 96 (2019) - p. 74-75 , 2019
Link:
https://doi.org/10.1016/..
?
13
Biallelic variants in LINGO1 are associated with autosomal ..:
Ansar, Muhammad
;
Riazuddin, Saima
;
Sarwar, Muhammad Tahir
...
Genetics in Medicine. 20 (2018) 7 - p. 778-784 , 2018
Link:
https://doi.org/10.1038/..
?
14
Human TGF-β1 deficiency causes severe inflammatory bowel di..:
Kotlarz, Daniel
;
Marquardt, Benjamin
;
Barøy, Tuva
...
Nature Genetics. 50 (2018) 3 - p. 344-348 , 2018
Link:
https://doi.org/10.1038/..
?
15
STIM1 R304W causes muscle degeneration and impaired platele..:
Gamage, Thilini H.
;
Gunnes, Gjermund
;
Lee, Robert Hugh
...
Cell Calcium. 76 (2018) - p. 87-100 , 2018
Link:
https://doi.org/10.1016/..
1-15