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Kati Donner

Showing results (21-30 of 26) with videos related to

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Ophthalmic Genetics|October 5, 2025
Long-read sequencing uncovers novel pathogenic duplications in the <i>PRPH2</i> gene in patients with macular dystrophyMichael P Backlund, Suzie A Gasparian, Pauliina E Repo, et al.
Human Mutation|August 19, 2006
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathyVilma-Lotta Lehtokari, Katarina Pelin, Maria Sandbacka, et al.
Neurology. Genetics|November 1, 2021
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> GenePeter Hackman, Salla M Rusanen, Mridul Johari, et al.
Human Mutation|September 11, 2014
Mutation update: the spectra of nebulin variants and associated myopathiesVilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A Sandaradura, et al.
Acta Neuropathologica|May 11, 2021
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusionsMridul Johari, Jaakko Sarparanta, Anna Vihola, et al.
Nature Communications|July 23, 2024
Complex trait susceptibilities and population diversity in a sample of 4,145 RussiansDmitrii Usoltsev, Nikita Kolosov, Oxana Rotar, et al.
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Showing results (21-30 of 26) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 26 results.
Ophthalmic Genetics|October 5, 2025
Long-read sequencing uncovers novel pathogenic duplications in the <i>PRPH2</i> gene in patients with macular dystrophyMichael P Backlund, Suzie A Gasparian, Pauliina E Repo, et al.
Human Mutation|August 19, 2006
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathyVilma-Lotta Lehtokari, Katarina Pelin, Maria Sandbacka, et al.
Neurology. Genetics|November 1, 2021
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> GenePeter Hackman, Salla M Rusanen, Mridul Johari, et al.
Human Mutation|September 11, 2014
Mutation update: the spectra of nebulin variants and associated myopathiesVilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A Sandaradura, et al.
Acta Neuropathologica|May 11, 2021
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusionsMridul Johari, Jaakko Sarparanta, Anna Vihola, et al.
Nature Communications|July 23, 2024
Complex trait susceptibilities and population diversity in a sample of 4,145 RussiansDmitrii Usoltsev, Nikita Kolosov, Oxana Rotar, et al.
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