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1دورية أكاديمية
المؤلفون: Nina Vodnjov, Janez Toplišek, Aleš Maver, Goran Čuturilo, Helena Jaklič, Nataša Teran, Tanja Višnjar, Maruša Škrjanec Pušenjak, Alenka Hodžić, Olivera Miljanović, Borut Peterlin, Karin Writzl
مصطلحات موضوعية: Genetics, Biotechnology, Cancer, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, seven additional relatives, sarcomeric protein genes, exome sequencing data, div >< p, adverse cardiac events, common ancestor living, 5 – 2, 45 – 81, substantially higher proportion, haplotype analysis revealed, known genetic cause, recurrent pathogenic variants, currently estimated 0, common genetic variant, common cause, genetic causes, significant proportion, retrospective analysis, balkans –, wide range, variant shared, remains scarce, novel splice
الإتاحة: https://doi.org/10.1371/journal.pone.0294969.s001Test
https://figshare.com/articles/journal_contribution/Clinical_characteristics_of_individuals_with_c_1646_2T_C_in_i_FHOD3_i_/24748312Test -
2
المؤلفون: Nina Vodnjov, Janez Toplišek, Aleš Maver, Goran Čuturilo, Helena Jaklič, Nataša Teran, Tanja Višnjar, Maruša Škrjanec Pušenjak, Alenka Hodžić, Olivera Miljanović, Borut Peterlin, Karin Writzl
مصطلحات موضوعية: Genetics, Biotechnology, Cancer, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, seven additional relatives, sarcomeric protein genes, exome sequencing data, div >< p, adverse cardiac events, common ancestor living, 5 – 2, 45 – 81, substantially higher proportion, haplotype analysis revealed, known genetic cause, recurrent pathogenic variants, currently estimated 0, common genetic variant, common cause, genetic causes, significant proportion, retrospective analysis, balkans –, wide range, variant shared, remains scarce, novel splice
الإتاحة: https://doi.org/10.1371/journal.pone.0294969.s002Test
https://figshare.com/articles/dataset/Summary_of_clinical_characteristics_of_individuals_with_c_1646_2T_C_in_i_FHOD3_i_/24748315Test -
3
المؤلفون: Nina Vodnjov, Janez Toplišek, Aleš Maver, Goran Čuturilo, Helena Jaklič, Nataša Teran, Tanja Višnjar, Maruša Škrjanec Pušenjak, Alenka Hodžić, Olivera Miljanović, Borut Peterlin, Karin Writzl
مصطلحات موضوعية: Genetics, Biotechnology, Cancer, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, seven additional relatives, sarcomeric protein genes, exome sequencing data, div >< p, adverse cardiac events, common ancestor living, 5 – 2, 45 – 81, substantially higher proportion, haplotype analysis revealed, known genetic cause, recurrent pathogenic variants, currently estimated 0, common genetic variant, common cause, genetic causes, significant proportion, retrospective analysis, balkans –, wide range, variant shared, remains scarce, novel splice
الإتاحة: https://doi.org/10.1371/journal.pone.0294969.t001Test
https://figshare.com/articles/dataset/Clinical_characteristics_of_13_individuals_with_heterozygous_i_FHOD3_i_c_1646_2T_C_who_showed_clinical_evidence_of_HCM_at_first_evaluation_/24748321Test -
4صورة
المؤلفون: Nina Vodnjov, Janez Toplišek, Aleš Maver, Goran Čuturilo, Helena Jaklič, Nataša Teran, Tanja Višnjar, Maruša Škrjanec Pušenjak, Alenka Hodžić, Olivera Miljanović, Borut Peterlin, Karin Writzl
مصطلحات موضوعية: Genetics, Biotechnology, Cancer, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, seven additional relatives, sarcomeric protein genes, exome sequencing data, div >< p, adverse cardiac events, common ancestor living, 5 – 2, 45 – 81, substantially higher proportion, haplotype analysis revealed, known genetic cause, recurrent pathogenic variants, currently estimated 0, common genetic variant, common cause, genetic causes, significant proportion, retrospective analysis, balkans –, wide range, variant shared, remains scarce, novel splice
الإتاحة: https://doi.org/10.1371/journal.pone.0294969.g001Test
https://figshare.com/articles/figure/The_estimated_age_of_i_FHOD3_i_c_1646_2T_C_variant_/24748318Test -
5
المؤلفون: Nina Vodnjov, Janez Toplišek, Aleš Maver, Goran Čuturilo, Helena Jaklič, Nataša Teran, Tanja Višnjar, Maruša Škrjanec Pušenjak, Alenka Hodžić, Olivera Miljanović, Borut Peterlin, Karin Writzl
مصطلحات موضوعية: Genetics, Biotechnology, Cancer, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, seven additional relatives, sarcomeric protein genes, exome sequencing data, div >< p, adverse cardiac events, common ancestor living, 5 – 2, 45 – 81, substantially higher proportion, haplotype analysis revealed, known genetic cause, recurrent pathogenic variants, currently estimated 0, common genetic variant, common cause, genetic causes, significant proportion, retrospective analysis, balkans –, wide range, variant shared, remains scarce, novel splice
الإتاحة: https://doi.org/10.1371/journal.pone.0294969.t002Test
https://figshare.com/articles/dataset/Haplotype_marker_analysis_in_11_individuals_with_i_FHOD3_i_c_1646_2T_C_variant_/24748324Test