Dysmorphology (English Edition)
Congenital anomalies occupy a field where developmental biology meets clinical interpretation. This volume introduces dysmorphology as both a diagnostic science and a reflective practice grounded in observation and reasoning. It traces the discipline’s evolution from descriptive morphology to its in...
Kaydedildi:
| Materyal Türü: | Online |
|---|---|
| Dil: | İngilizce |
| Baskı/Yayın Bilgisi: |
South American Publishing
2026
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| Konular: | |
| Online Erişim: | https://directory.doabooks.org/handle/20.500.12854/176898 |
| Etiketler: |
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| _version_ | 1869517774811824128 |
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| collection | Directory of Open Access Books |
| description | Congenital anomalies occupy a field where developmental biology meets clinical interpretation. This volume introduces dysmorphology as both a diagnostic science and a reflective practice grounded in observation and reasoning. It traces the discipline’s evolution from descriptive morphology to its integration with cytogenetics and molecular genetics, clarifying how chromosomal, monogenic, and multifactorial factors shape abnormal development. Emphasis is placed on clinical method—anamnesis, examination, and pedigree analysis—as the foundation for diagnostic hypotheses and judicious genetic testing. Contemporary frameworks such as standardized phenotypic nomenclature and genomic sequencing are examined alongside their ethical and conceptual implications. |
| format | Online |
| id | doab-20.500.12854ir-176898 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2026 |
| publishDateRange | 2026 |
| publishDateSort | 2026 |
| publisher | South American Publishing |
| publisherStr | South American Publishing |
| record_format | ojs |
| spelling | doab-20.500.12854ir-1768982026-05-25T06:31:03Z Dysmorphology (English Edition) Morales Peralta, Estela Dysmorphology, Congenital Anomalies, Phenotypic Variability, Clinical Genetics, Human Phenotype Ontology thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics Congenital anomalies occupy a field where developmental biology meets clinical interpretation. This volume introduces dysmorphology as both a diagnostic science and a reflective practice grounded in observation and reasoning. It traces the discipline’s evolution from descriptive morphology to its integration with cytogenetics and molecular genetics, clarifying how chromosomal, monogenic, and multifactorial factors shape abnormal development. Emphasis is placed on clinical method—anamnesis, examination, and pedigree analysis—as the foundation for diagnostic hypotheses and judicious genetic testing. Contemporary frameworks such as standardized phenotypic nomenclature and genomic sequencing are examined alongside their ethical and conceptual implications. Published 2026-05-25T06:31:01Z 2026-05-25T06:31:01Z 2024-10-25 book 978-9915-9875-7-6 https://directory.doabooks.org/handle/20.500.12854/176898 eng application/octet-stream South American Publishing South American Publishing 10.62486/978-9915-9875-7-6 10.62486/978-9915-9875-7-6 18fbfe3b-3f91-4cf7-b6b9-18d696cb9331 978-9915-9875-7-6 South American Publishing 49 Montevideo open access |
| spellingShingle | Dysmorphology, Congenital Anomalies, Phenotypic Variability, Clinical Genetics, Human Phenotype Ontology thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics Dysmorphology (English Edition) |
| title | Dysmorphology (English Edition) |
| title_full | Dysmorphology (English Edition) |
| title_fullStr | Dysmorphology (English Edition) |
| title_full_unstemmed | Dysmorphology (English Edition) |
| title_short | Dysmorphology (English Edition) |
| title_sort | dysmorphology english edition |
| topic | Dysmorphology, Congenital Anomalies, Phenotypic Variability, Clinical Genetics, Human Phenotype Ontology thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics |
| topic_facet | Dysmorphology, Congenital Anomalies, Phenotypic Variability, Clinical Genetics, Human Phenotype Ontology thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics |
| url | https://directory.doabooks.org/handle/20.500.12854/176898 |