Elisa Rahikkala

Finland

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Articles (11)

Year:

2023

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2022

Year:

2022

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2022

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2022

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2022

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2021

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2021

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2021

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2020

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2020

Collaborators (11)

Vilja Pietiäinen

University of Helsinki

FINLAND

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Suzanne M. Leal

UNITED STATES

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Timo Hautala

Professor in microbiology and immunology

University of Oulu

FINLAND

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Irma Järvelä

University of Helsinki

FINLAND

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Antti Hassinen

University of Helsinki

FINLAND

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Isabelle Schrauwen

Columbia University

UNITED STATES

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Lea Urpa

University of Helsinki

FINLAND

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Johanna Julku

Oulu University Hospital

FINLAND

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Maryna Koskela

University of Helsinki

FINLAND

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Yalda Jamshidi

Reader in Genomic Medicine

St George’s, University of London

UNITED KINGDOM

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Bishwa Ghimire

University of Helsinki

FINLAND

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Elisa Rahikkala

Research Interests

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Articles (11)

Pathogenic REST variant causing Jones syndrome and a review of the literature

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic <i>TMC1</i> Variants

A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes

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

Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings

Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland

X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population (European Journal of Human Genetics, (2019), 27, 8, (1235-1243), 10.1038/s41431-019-0383-8)

Collaborators (11)

Vilja Pietiäinen

Suzanne M. Leal

Timo Hautala

Irma Järvelä

Antti Hassinen

Isabelle Schrauwen

Lea Urpa

Johanna Julku

Maryna Koskela

Yalda Jamshidi

Bishwa Ghimire

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