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A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

Peer-reviewed
DOI
10.1007/s00431-015-2661-y
Jackson, C. B.; Bauer, M. F.; Schaller, A.; Kotzaeridou, U.; Ferrarini, A.; Hahn, D.; Chehade, H.; B...
European journal of pediatrics2016

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

Peer-reviewed
Open access
DOI
10.1172/JCI141455
De Franco, Elisa; Lytrivi, Maria; Ibrahim, Hazem; Montaser, Hossam; Wakeling, Matthew N.; Fantuzzi, ...
Journal of clinical investigation2020

Development of an adverse outcome pathway for radiation-induced microcephaly via expert consultation and machine learning

Peer-reviewed
Open access
DOI
10.1080/09553002.2022.2110312
Jaylet, Thomas; Quintens, Roel; Benotmane, Mohamed Abderrafi; Luukkonen, Jukka; Tanaka, Ignacia Brag...
International journal of radiation biology2022

Identification of novel human microcephaly-linked protein Mtss2 that mediates cortical progenitor cell division and corticogenesis through Nedd9-RhoA

Peer-reviewed
Open access
DOI
10.7554/eLife.92748
Carabalona, Aurelie; Kallo, Henna; Gonzalez, Maryanne; Andriichuk, Liliia; Elomaa, Ellinoora; Molina...
eLife2025

Hjärnskador hos fostret till följd av myggbett - en kort historisk över zikaviruset

Open access
Korhonen, Essi; Vapalahti, Olli
Finska läkaresällskapets handlingar2018

Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction

Peer-reviewed
Open access
DOI
10.1016/j.jaci.2020.12.656
Kaustio, Meri; Nayebzadeh, Naemeh; Hinttala, Reetta; Tapiainen, Terhi; Åström, Pirjo; Mamia, Katarii...
Journal of allergy and clinical immunology2021

Neuropathogenic flaviviruses : isolation and characterization of Zika and tick-borne encephalitis viruses from human brains

Kuivanen, Suvi
[S. Kuivanen]2017

Emergence of dengue and Zika virus : travellers as sentinels for global epidemics

Korhonen, Essi M.
[E. M. Korhonen]2017

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

Peer-reviewed
DOI
10.1007/s00431-015-2661-y
2016

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

Peer-reviewed
Open access
DOI
10.1172/JCI141455
2020

Development of an adverse outcome pathway for radiation-induced microcephaly via expert consultation and machine learning

Peer-reviewed
Open access
DOI
10.1080/09553002.2022.2110312
2022

Identification of novel human microcephaly-linked protein Mtss2 that mediates cortical progenitor cell division and corticogenesis through Nedd9-RhoA

Peer-reviewed
Open access
DOI
10.7554/eLife.92748
2025

Hjärnskador hos fostret till följd av myggbett - en kort historisk över zikaviruset

Open access
2018

Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction

Peer-reviewed
Open access
DOI
10.1016/j.jaci.2020.12.656
2021

Neuropathogenic flaviviruses : isolation and characterization of Zika and tick-borne encephalitis viruses from human brains

2017

Emergence of dengue and Zika virus : travellers as sentinels for global epidemics

2017