The combination of chromosomal reorganization and inherited point mutation has led to the development of a rare clinical phenotype in a patient with disorder of sex differentiation and neuromuscular pathology
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| Дата: | 2022 |
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| Автори: | , , , , , , , |
| Формат: | Стаття |
| Мова: | English |
| Опубліковано: |
2022
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| Назва видання: | Cytology and genetics |
| Онлайн доступ: | http://jnas.nbuv.gov.ua/article/UJRN-0001365905 |
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| Назва журналу: | Library portal of National Academy of Sciences of Ukraine | LibNAS |
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Library portal of National Academy of Sciences of Ukraine | LibNAS| id |
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open-sciencenbuvgovua-18182023-09-12T18:00:34Z The combination of chromosomal reorganization and inherited point mutation has led to the development of a rare clinical phenotype in a patient with disorder of sex differentiation and neuromuscular pathology L. V. Popovych A. V. Shatillo N. B. Zelinska L. V. Tavokina O. V. Horodna H. B. Livshyts D. A. Sirokha L. A. Livshyts 0564-3783 2022 en Cytology and genetics http://jnas.nbuv.gov.ua/article/UJRN-0001365905 Article |
| institution |
Library portal of National Academy of Sciences of Ukraine | LibNAS |
| collection |
Open-Science |
| language |
English |
| series |
Cytology and genetics |
| spellingShingle |
Cytology and genetics L. V. Popovych A. V. Shatillo N. B. Zelinska L. V. Tavokina O. V. Horodna H. B. Livshyts D. A. Sirokha L. A. Livshyts The combination of chromosomal reorganization and inherited point mutation has led to the development of a rare clinical phenotype in a patient with disorder of sex differentiation and neuromuscular pathology |
| format |
Article |
| author |
L. V. Popovych A. V. Shatillo N. B. Zelinska L. V. Tavokina O. V. Horodna H. B. Livshyts D. A. Sirokha L. A. Livshyts |
| author_facet |
L. V. Popovych A. V. Shatillo N. B. Zelinska L. V. Tavokina O. V. Horodna H. B. Livshyts D. A. Sirokha L. A. Livshyts |
| author_sort |
L. V. Popovych |
| title |
The combination of chromosomal reorganization and inherited point mutation has led to the development of a rare clinical phenotype in a patient with disorder of sex differentiation and neuromuscular pathology |
| title_short |
The combination of chromosomal reorganization and inherited point mutation has led to the development of a rare clinical phenotype in a patient with disorder of sex differentiation and neuromuscular pathology |
| title_full |
The combination of chromosomal reorganization and inherited point mutation has led to the development of a rare clinical phenotype in a patient with disorder of sex differentiation and neuromuscular pathology |
| title_fullStr |
The combination of chromosomal reorganization and inherited point mutation has led to the development of a rare clinical phenotype in a patient with disorder of sex differentiation and neuromuscular pathology |
| title_full_unstemmed |
The combination of chromosomal reorganization and inherited point mutation has led to the development of a rare clinical phenotype in a patient with disorder of sex differentiation and neuromuscular pathology |
| title_sort |
combination of chromosomal reorganization and inherited point mutation has led to the development of a rare clinical phenotype in a patient with disorder of sex differentiation and neuromuscular pathology |
| publishDate |
2022 |
| url |
http://jnas.nbuv.gov.ua/article/UJRN-0001365905 |
| work_keys_str_mv |
AT lvpopovych thecombinationofchromosomalreorganizationandinheritedpointmutationhasledtothedevelopmentofarareclinicalphenotypeinapatientwithdisorderofsexdifferentiationandneuromuscularpathology AT avshatillo thecombinationofchromosomalreorganizationandinheritedpointmutationhasledtothedevelopmentofarareclinicalphenotypeinapatientwithdisorderofsexdifferentiationandneuromuscularpathology AT nbzelinska thecombinationofchromosomalreorganizationandinheritedpointmutationhasledtothedevelopmentofarareclinicalphenotypeinapatientwithdisorderofsexdifferentiationandneuromuscularpathology AT lvtavokina thecombinationofchromosomalreorganizationandinheritedpointmutationhasledtothedevelopmentofarareclinicalphenotypeinapatientwithdisorderofsexdifferentiationandneuromuscularpathology AT ovhorodna thecombinationofchromosomalreorganizationandinheritedpointmutationhasledtothedevelopmentofarareclinicalphenotypeinapatientwithdisorderofsexdifferentiationandneuromuscularpathology AT hblivshyts thecombinationofchromosomalreorganizationandinheritedpointmutationhasledtothedevelopmentofarareclinicalphenotypeinapatientwithdisorderofsexdifferentiationandneuromuscularpathology AT dasirokha thecombinationofchromosomalreorganizationandinheritedpointmutationhasledtothedevelopmentofarareclinicalphenotypeinapatientwithdisorderofsexdifferentiationandneuromuscularpathology AT lalivshyts thecombinationofchromosomalreorganizationandinheritedpointmutationhasledtothedevelopmentofarareclinicalphenotypeinapatientwithdisorderofsexdifferentiationandneuromuscularpathology AT lvpopovych combinationofchromosomalreorganizationandinheritedpointmutationhasledtothedevelopmentofarareclinicalphenotypeinapatientwithdisorderofsexdifferentiationandneuromuscularpathology AT avshatillo combinationofchromosomalreorganizationandinheritedpointmutationhasledtothedevelopmentofarareclinicalphenotypeinapatientwithdisorderofsexdifferentiationandneuromuscularpathology AT nbzelinska combinationofchromosomalreorganizationandinheritedpointmutationhasledtothedevelopmentofarareclinicalphenotypeinapatientwithdisorderofsexdifferentiationandneuromuscularpathology AT lvtavokina combinationofchromosomalreorganizationandinheritedpointmutationhasledtothedevelopmentofarareclinicalphenotypeinapatientwithdisorderofsexdifferentiationandneuromuscularpathology AT ovhorodna combinationofchromosomalreorganizationandinheritedpointmutationhasledtothedevelopmentofarareclinicalphenotypeinapatientwithdisorderofsexdifferentiationandneuromuscularpathology AT hblivshyts combinationofchromosomalreorganizationandinheritedpointmutationhasledtothedevelopmentofarareclinicalphenotypeinapatientwithdisorderofsexdifferentiationandneuromuscularpathology AT dasirokha combinationofchromosomalreorganizationandinheritedpointmutationhasledtothedevelopmentofarareclinicalphenotypeinapatientwithdisorderofsexdifferentiationandneuromuscularpathology AT lalivshyts combinationofchromosomalreorganizationandinheritedpointmutationhasledtothedevelopmentofarareclinicalphenotypeinapatientwithdisorderofsexdifferentiationandneuromuscularpathology |
| first_indexed |
2025-07-17T10:35:17Z |
| last_indexed |
2025-07-17T10:35:17Z |
| _version_ |
1850410746103463936 |