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Ronja Hotakainen

Showing results (1-10 of 7) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 1, 2025
Response to Gruzin et alRonja Hotakainen, Kaisa Kettunen, Anna-Kaisa Anttonen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2024
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestriesRonja Hotakainen, Timo Järvinen, Kaisa Kettunen, et al.
Clinical Genetics|November 1, 2020
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 geneKornelia Tripolszki, Erina Sasaki, Ronja Hotakainen, et al.
Genome Medicine|November 24, 2022
Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrationsNiina Sandholm, Ronja Hotakainen, Jani K Haukka, et al.
Genome Medicine|October 17, 2025
Recommendations for bioinformatics in clinical practiceKsenia Lavrichenko, Emilie Sofie Engdal, Rasmus L Marvig, et al.
Journal of Medical Genetics|December 25, 2021
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the <i>AGR2</i> geneAida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2021
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disordersAida M Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 1, 2025
Response to Gruzin et alRonja Hotakainen, Kaisa Kettunen, Anna-Kaisa Anttonen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2024
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestriesRonja Hotakainen, Timo Järvinen, Kaisa Kettunen, et al.
Clinical Genetics|November 1, 2020
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 geneKornelia Tripolszki, Erina Sasaki, Ronja Hotakainen, et al.
Genome Medicine|November 24, 2022
Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrationsNiina Sandholm, Ronja Hotakainen, Jani K Haukka, et al.
Genome Medicine|October 17, 2025
Recommendations for bioinformatics in clinical practiceKsenia Lavrichenko, Emilie Sofie Engdal, Rasmus L Marvig, et al.
Journal of Medical Genetics|December 25, 2021
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the <i>AGR2</i> geneAida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2021
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disordersAida M Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, et al.
Pageof 1