المؤلفون: Cerdeña, Jessica P, Grubbs, Vanessa, Non, Amy L

المصدر: Human Genomics. 16(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Clinical Research, Genomics, Humans, Racism, Genetic ancestry, Race, Disease-causing alleles, Structural racism, Genetics & Heredity, Biochemistry and cell biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9vz2q8b9
https://escholarship.org/content/qt9vz2q8b9/qt9vz2q8b9.pdf

المؤلفون: Jessica P. Cerdeña, Vanessa Grubbs, Amy L. Non

المصدر: Human Genomics, Vol 16, Iss 1, Pp 1-5 (2022)

مصطلحات موضوعية: Genetic ancestry, Race, Disease-causing alleles, Structural racism, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/454a48423881440290769679af99f931

المؤلفون: Nicole Weisschuh (166859), Simone Schimpf-Linzenbold (11105963), Pascale Mazzola (9697346), Sinja Kieninger (8780231), Ting Xiao (38895), Ulrich Kellner (845929), Teresa Neuhann (483426), Carina Kelbsch (9697352), Felix Tonagel (9697349), Helmut Wilhelm (3445853), Susanne Kohl (51398), Bernd Wissinger (24666)

مصطلحات موضوعية: Medicine, Microbiology, Genetics, Infectious Diseases, Virology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, atrophy, splice sites, copy number variations, disease-causing alleles, 48 novel variants Autosomal, Splicing analysis, next-generation sequencing platforms, Sanger sequencing, cases harbor, Genetic testing, Genetic screening, heterologous splice assays, splice variants, OPA 1 gene, Forty-eight variants, multiplex ligation-dependent probe ., single-strand conformation polymorphism, mutation spectrum, 20 years, Special emphasis, novel variants

Relation: https://figshare.com/articles/journal_contribution/S1_Raw_images_-/14943134

الاتاحة: https://doi.org/10.1371/journal.pone.0253987.s003

المؤلفون: Nicole Weisschuh (166859), Simone Schimpf-Linzenbold (11105963), Pascale Mazzola (9697346), Sinja Kieninger (8780231), Ting Xiao (38895), Ulrich Kellner (845929), Teresa Neuhann (483426), Carina Kelbsch (9697352), Felix Tonagel (9697349), Helmut Wilhelm (3445853), Susanne Kohl (51398), Bernd Wissinger (24666)

مصطلحات موضوعية: Medicine, Microbiology, Genetics, Infectious Diseases, Virology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, atrophy, splice sites, copy number variations, disease-causing alleles, 48 novel variants Autosomal, Splicing analysis, next-generation sequencing platforms, Sanger sequencing, cases harbor, Genetic testing, Genetic screening, heterologous splice assays, splice variants, OPA 1 gene, Forty-eight variants, multiplex ligation-dependent probe ., single-strand conformation polymorphism, mutation spectrum, 20 years, Special emphasis, novel variants

Relation: https://figshare.com/articles/figure/Distribution_of_i_OPA1_i_variants_/14943137

الاتاحة: https://doi.org/10.1371/journal.pone.0253987.g001

المؤلفون: Nicole Weisschuh (166859), Simone Schimpf-Linzenbold (11105963), Pascale Mazzola (9697346), Sinja Kieninger (8780231), Ting Xiao (38895), Ulrich Kellner (845929), Teresa Neuhann (483426), Carina Kelbsch (9697352), Felix Tonagel (9697349), Helmut Wilhelm (3445853), Susanne Kohl (51398), Bernd Wissinger (24666)

مصطلحات موضوعية: Medicine, Microbiology, Genetics, Infectious Diseases, Virology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, atrophy, splice sites, copy number variations, disease-causing alleles, 48 novel variants Autosomal, Splicing analysis, next-generation sequencing platforms, Sanger sequencing, cases harbor, Genetic testing, Genetic screening, heterologous splice assays, splice variants, OPA 1 gene, Forty-eight variants, multiplex ligation-dependent probe ., single-strand conformation polymorphism, mutation spectrum, 20 years, Special emphasis, novel variants

Relation: https://figshare.com/articles/figure/Direct_cDNA_analysis_from_patients_blood_samples_/14943128

الاتاحة: https://doi.org/10.1371/journal.pone.0253987.s001

المؤلفون: Nicole Weisschuh (166859), Simone Schimpf-Linzenbold (11105963), Pascale Mazzola (9697346), Sinja Kieninger (8780231), Ting Xiao (38895), Ulrich Kellner (845929), Teresa Neuhann (483426), Carina Kelbsch (9697352), Felix Tonagel (9697349), Helmut Wilhelm (3445853), Susanne Kohl (51398), Bernd Wissinger (24666)

مصطلحات موضوعية: Medicine, Microbiology, Genetics, Infectious Diseases, Virology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, atrophy, splice sites, copy number variations, disease-causing alleles, 48 novel variants Autosomal, Splicing analysis, next-generation sequencing platforms, Sanger sequencing, cases harbor, Genetic testing, Genetic screening, heterologous splice assays, splice variants, OPA 1 gene, Forty-eight variants, multiplex ligation-dependent probe ., single-strand conformation polymorphism, mutation spectrum, 20 years, Special emphasis, novel variants

Relation: https://figshare.com/articles/figure/_i_In_vitro_i_splice_assays_of_variants_c_2014-10A_G_A_C_and_c_2356-8T_G_B_D_/14943131

الاتاحة: https://doi.org/10.1371/journal.pone.0253987.s002

المؤلفون: Nicole Weisschuh (166859), Simone Schimpf-Linzenbold (11105963), Pascale Mazzola (9697346), Sinja Kieninger (8780231), Ting Xiao (38895), Ulrich Kellner (845929), Teresa Neuhann (483426), Carina Kelbsch (9697352), Felix Tonagel (9697349), Helmut Wilhelm (3445853), Susanne Kohl (51398), Bernd Wissinger (24666)

مصطلحات موضوعية: Medicine, Microbiology, Genetics, Infectious Diseases, Virology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, atrophy, splice sites, copy number variations, disease-causing alleles, 48 novel variants Autosomal, Splicing analysis, next-generation sequencing platforms, Sanger sequencing, cases harbor, Genetic testing, Genetic screening, heterologous splice assays, splice variants, OPA 1 gene, Forty-eight variants, multiplex ligation-dependent probe ., single-strand conformation polymorphism, mutation spectrum, 20 years, Special emphasis, novel variants

Relation: https://figshare.com/articles/dataset/Ten_most_frequent_variants_in_our_cohort_/14943152

الاتاحة: https://doi.org/10.1371/journal.pone.0253987.t004

المؤلفون: Nicole Weisschuh (166859), Simone Schimpf-Linzenbold (11105963), Pascale Mazzola (9697346), Sinja Kieninger (8780231), Ting Xiao (38895), Ulrich Kellner (845929), Teresa Neuhann (483426), Carina Kelbsch (9697352), Felix Tonagel (9697349), Helmut Wilhelm (3445853), Susanne Kohl (51398), Bernd Wissinger (24666)

مصطلحات موضوعية: Medicine, Microbiology, Genetics, Infectious Diseases, Virology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, atrophy, splice sites, copy number variations, disease-causing alleles, 48 novel variants Autosomal, Splicing analysis, next-generation sequencing platforms, Sanger sequencing, cases harbor, Genetic testing, Genetic screening, heterologous splice assays, splice variants, OPA 1 gene, Forty-eight variants, multiplex ligation-dependent probe ., single-strand conformation polymorphism, mutation spectrum, 20 years, Special emphasis, novel variants

Relation: https://figshare.com/articles/figure/Novel_amino_acid_substitution_variants_in_i_OPA1_i_classified_as_VUS_/14943140

الاتاحة: https://doi.org/10.1371/journal.pone.0253987.g002

المؤلفون: Nicole Weisschuh (166859), Simone Schimpf-Linzenbold (11105963), Pascale Mazzola (9697346), Sinja Kieninger (8780231), Ting Xiao (38895), Ulrich Kellner (845929), Teresa Neuhann (483426), Carina Kelbsch (9697352), Felix Tonagel (9697349), Helmut Wilhelm (3445853), Susanne Kohl (51398), Bernd Wissinger (24666)

مصطلحات موضوعية: Medicine, Microbiology, Genetics, Infectious Diseases, Virology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, atrophy, splice sites, copy number variations, disease-causing alleles, 48 novel variants Autosomal, Splicing analysis, next-generation sequencing platforms, Sanger sequencing, cases harbor, Genetic testing, Genetic screening, heterologous splice assays, splice variants, OPA 1 gene, Forty-eight variants, multiplex ligation-dependent probe ., single-strand conformation polymorphism, mutation spectrum, 20 years, Special emphasis, novel variants

Relation: https://figshare.com/articles/dataset/Demographic_data_of_study_cohort_/14943143

الاتاحة: https://doi.org/10.1371/journal.pone.0253987.t001