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Trine Prescott

Showing results (31-40 of 38) with videos related to

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Science Advances|February 17, 2023
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sitesNicola de Prisco, Caitlin Ford, Nathan D Elrod, et al.
American Journal of Human Genetics|April 26, 2016
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative EffectMeriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, et al.
American Journal of Human Genetics|June 7, 2014
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsJoe Rainger, Davut Pehlivan, Stefan Johansson, et al.
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
Genome Medicine|May 22, 2021
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disordersIlaria Mannucci, Nghi D P Dang, Hannes Huber, et al.
Nature Communications|January 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disordersKevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, et al.
Science Advances|December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Dong Li, Samuel G Cox, et al.
Pageof 4

Showing results (31-40 of 38) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 38 results.
Science Advances|February 17, 2023
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sitesNicola de Prisco, Caitlin Ford, Nathan D Elrod, et al.
American Journal of Human Genetics|April 26, 2016
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative EffectMeriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, et al.
American Journal of Human Genetics|June 7, 2014
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsJoe Rainger, Davut Pehlivan, Stefan Johansson, et al.
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
Genome Medicine|May 22, 2021
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disordersIlaria Mannucci, Nghi D P Dang, Hannes Huber, et al.
Nature Communications|January 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disordersKevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, et al.
Science Advances|December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Dong Li, Samuel G Cox, et al.
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