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Strømme, Petter
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1

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/..
 
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2

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/..
 
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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/..
 
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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/..
 
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5

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/..
 
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6

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/..
 
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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/..
 
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8

Endocrine and Growth Abnormalities in 4H Leukodystrophy Cau..:

Pelletier, Félixe ; Perrier, Stefanie ; Cayami, Ferdy K...
The Journal of Clinical Endocrinology & Metabolism.  106 (2020)  2 - p. e660-e674 , 2020
Link: https://doi.org/10.1210/..
 
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9

Potassium citrate and metabolic acidosis in children with e..:

Bjurulf, Björn ; Magnus, Per ; Hallböök, Tove.
Developmental Medicine & Child Neurology.  62 (2019)  1 - p. 57-61 , 2019
Link: https://doi.org/10.1111/..
 
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10

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/..
 
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11

CUGC for Stromme syndrome and CENPF-related disorders:

Filges, Isabel ; Stromme, Petter
European Journal of Human Genetics.  28 (2019)  1 - p. 132-136 , 2019
Link: https://doi.org/10.1038/..
 
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12

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/..
 
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13

YY1 Haploinsufficiency Causes an Intellectual Disability Sy..:

Gabriele, Michele ; Vulto-van Silfhout, Anneke T. ; Germain, Pierre-Luc...
The American Journal of Human Genetics.  100 (2017)  6 - p. 907-925 , 2017
Link: https://doi.org/10.1016/..
 
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14

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations ..:

Filges, Isabel ; Bruder, Elisabeth ; Brandal, Kristin...
Human Mutation.  37 (2016)  7 - p. 711-711 , 2016
Link: https://doi.org/10.1002/..
 
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15

Delineating theGRIN1phenotypic spectrum: A distinct genetic..:

Lemke, Johannes R. ; Geider, Kirsten ; Helbig, Katherine L....
Neurology.  86 (2016)  23 - p. 2171-2178 , 2016
Link: https://doi.org/10.1212/..
 
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