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Pilvi Ilves

Showing results (31-40 of 41) with videos related to

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Molecular Genetics & Genomic Medicine|March 2, 2023
AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new featureLaura Roht, Hanne K Hyldebrandt, Astrid T Stormorken, et al.
Communications Medicine|November 27, 2025
A clinically validated AI framework for kidney cancer detection and characterizationBohdan Petryshak, Mikhail Iljin, Alina Denissova, et al.
Radiology|November 10, 2020
Variations in CT Utilization, Protocols, and Radiation Doses in COVID-19 Pneumonia: Results from 28 Countries in the IAEA StudyFatemeh Homayounieh, Ola Holmberg, Rashid Al Umairi, et al.
Nature Communications|January 13, 2026
Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humansClaudia M Bonardi, Rikke S Møller, Nuria Ruiz-Reig, et al.
Journal of Inherited Metabolic Disease|February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patientsMari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.
American Journal of Human Genetics|August 26, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizuresSankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, et al.
Neurology|November 11, 2018
Neurologic phenotypes associated with <i>COL4A1</i>/<i>2</i> mutations: Expanding the spectrum of diseaseSara Zagaglia, Christina Selch, Jelena Radic Nisevic, et al.
American Journal of Human Genetics|June 4, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.
American Journal of Human Genetics|April 16, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 9, 2022
Rare pathogenic variants in WNK3 cause X-linked intellectual disabilitySébastien Küry, Jinwei Zhang, Thomas Besnard, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
Molecular Genetics & Genomic Medicine|March 2, 2023
AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new featureLaura Roht, Hanne K Hyldebrandt, Astrid T Stormorken, et al.
Communications Medicine|November 27, 2025
A clinically validated AI framework for kidney cancer detection and characterizationBohdan Petryshak, Mikhail Iljin, Alina Denissova, et al.
Radiology|November 10, 2020
Variations in CT Utilization, Protocols, and Radiation Doses in COVID-19 Pneumonia: Results from 28 Countries in the IAEA StudyFatemeh Homayounieh, Ola Holmberg, Rashid Al Umairi, et al.
Nature Communications|January 13, 2026
Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humansClaudia M Bonardi, Rikke S Møller, Nuria Ruiz-Reig, et al.
Journal of Inherited Metabolic Disease|February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patientsMari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.
American Journal of Human Genetics|August 26, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizuresSankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, et al.
Neurology|November 11, 2018
Neurologic phenotypes associated with <i>COL4A1</i>/<i>2</i> mutations: Expanding the spectrum of diseaseSara Zagaglia, Christina Selch, Jelena Radic Nisevic, et al.
American Journal of Human Genetics|June 4, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.
American Journal of Human Genetics|April 16, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 9, 2022
Rare pathogenic variants in WNK3 cause X-linked intellectual disabilitySébastien Küry, Jinwei Zhang, Thomas Besnard, et al.
Pageof 5