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Strømme, Petter
115  Ergebnisse:
Personensuche X
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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/..
 
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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/..
 
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3

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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4

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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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

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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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

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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9

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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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

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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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

A novel mutation in FBXL4 in a Norwegian child with encepha..:

Barøy, Tuva ; Pedurupillay, Christeen Ramane J. ; Bliksrud, Yngve T....
European Journal of Medical Genetics.  59 (2016)  6-7 - p. 342-346 , 2016
Link: https://doi.org/10.1016/..
 
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15

Clinical and molecular characteristics in three families wi..:

Pedurupillay, Christeen Ramane J. ; Amundsen, Silja S. ; Barøy, Tuva...
Neuromuscular Disorders.  26 (2016)  9 - p. 570-575 , 2016
Link: https://doi.org/10.1016/..
 
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