Birth defects original article series最新文献

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Human evolution. 人类进化。
Birth defects original article series Pub Date : 2020-11-30 DOI: 10.2307/j.ctvc773jn.13
E. Birkenmeier
{"title":"Human evolution.","authors":"E. Birkenmeier","doi":"10.2307/j.ctvc773jn.13","DOIUrl":"https://doi.org/10.2307/j.ctvc773jn.13","url":null,"abstract":"The main events and circumstances of human evolution are considered: classification of hominids, first descriptions, localization, chronology; artifacts characterizing their material and cultural activities; modern reconstruction of lifestyle and resettlement; and modern theories explaining the structural features of hominids and the processes of their occurrence. The manifestations of intelligent activity are discussed, in particular, their dependence from the structure of the body, the size, and complexity of the brain, for which comparisons with various animals are made. Particular attention is paid to unresolved or controversial issues. This material is necessary to assess the possibilities of the self-organization of complex systems theory (second chapter): if it adequately models the characteristics of a human's origin, then it can be used to understand the evolution of human mind and in the subsequent period, up to the current state.","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"23 3 1","pages":"209-19"},"PeriodicalIF":0.0,"publicationDate":"2020-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47762193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The branchioskeletogenital syndrome. 分支骨骼生殖综合征。
Birth defects original article series Pub Date : 2020-02-10 DOI: 10.32388/zx4doi
J. Shafai, G. Watters, S. Peña
{"title":"The branchioskeletogenital syndrome.","authors":"J. Shafai, G. Watters, S. Peña","doi":"10.32388/zx4doi","DOIUrl":"https://doi.org/10.32388/zx4doi","url":null,"abstract":"Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"18 3B 1","pages":"193-6"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47202383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Dysosteosclerosis. 骨硬化症。
Birth defects original article series Pub Date : 2020-02-10 DOI: 10.32388/4bx8mb
J. Leisti, I. Kaitila, R. Lachman, M. Asch, D. Rimoin
{"title":"Dysosteosclerosis.","authors":"J. Leisti, I. Kaitila, R. Lachman, M. Asch, D. Rimoin","doi":"10.32388/4bx8mb","DOIUrl":"https://doi.org/10.32388/4bx8mb","url":null,"abstract":"A 5 1/2 year old boy presented with delayed development and loss of vision. A skeletal survey showed osteosclerosis consistent with dysosteosclerosis. Some unusual features of dysosteosclerosis are discussed.","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"11 6 1","pages":"349-51"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69618740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 20
Cleidocranial dysplasia. Cleidocranial发育不良。
Birth defects original article series Pub Date : 2020-02-10 DOI: 10.32388/b3bprm
J. Hasler, J. Vandermer
{"title":"Cleidocranial dysplasia.","authors":"J. Hasler, J. Vandermer","doi":"10.32388/b3bprm","DOIUrl":"https://doi.org/10.32388/b3bprm","url":null,"abstract":"Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones, also called clavicles (\"cleido-\" in the condition name refers to these bones). As a result, their shoulders are narrow and sloping, can be brought unusually close together in front of the body, and in some cases can be made to meet in the middle of the body. Delayed maturation of the skull (cranium) is also characteristic of this condition, including delayed closing of the growth lines where the bones of the skull meet (sutures) and larger than normal spaces (fontanelles) between the skull bones that are noticeable as \"soft spots\" on the heads of infants. The fontanelles normally close in early childhood, but they may remain open throughout life in people with this disorder. Some individuals with cleidocranial dysplasia have extra pieces of bone called Wormian bones within the sutures.","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"10 12 1","pages":"524-6"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47639346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 63
Apert syndrome. Apert综合征。
Birth defects original article series Pub Date : 2020-02-10 DOI: 10.32388/zqappj
K. Nicholas, R. Jorgenson
{"title":"Apert syndrome.","authors":"K. Nicholas, R. Jorgenson","doi":"10.32388/zqappj","DOIUrl":"https://doi.org/10.32388/zqappj","url":null,"abstract":"Craniosynostosis causes many of the characteristic facial features of Apert syndrome. Premature fusion of the skull bones prevents the head from growing normally, which leads to a sunken appearance in the middle of the face (midface hypoplasia), a beaked nose, a wrinkled forehead, and an opening in the roof of the mouth (a cleft palate). In individuals with Apert syndrome, an underdeveloped upper jaw can lead to dental problems, such as missing teeth, irregular tooth enamel, and crowded teeth.","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"11 2 1","pages":"396"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46659466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Metachondromatosis 后软骨瘤病
Birth defects original article series Pub Date : 2020-02-10 DOI: 10.32388/iwqtfc
{"title":"Metachondromatosis","authors":"","doi":"10.32388/iwqtfc","DOIUrl":"https://doi.org/10.32388/iwqtfc","url":null,"abstract":"","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69632954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
Choroideremia. Choroideremia。
Birth defects original article series Pub Date : 2020-02-07 DOI: 10.32388/ml90qm
J. L. Murdoch
{"title":"Choroideremia.","authors":"J. L. Murdoch","doi":"10.32388/ml90qm","DOIUrl":"https://doi.org/10.32388/ml90qm","url":null,"abstract":"","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"7 3 1","pages":"196-7"},"PeriodicalIF":0.0,"publicationDate":"2020-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47515024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acetylation. 乙酰化作用。
Birth defects original article series Pub Date : 2020-02-02 DOI: 10.1016/b978-0-12-380002-2.50015-4
W. Weber
{"title":"Acetylation.","authors":"W. Weber","doi":"10.1016/b978-0-12-380002-2.50015-4","DOIUrl":"https://doi.org/10.1016/b978-0-12-380002-2.50015-4","url":null,"abstract":"","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"26 1 1","pages":"43-65"},"PeriodicalIF":0.0,"publicationDate":"2020-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47059812","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
MONUMENT STATUE STUDY OF NANI WARTABONE STRUGGLE THROUGH BACKGROUND AND ITS VISUALIZATION 纳尼瓦他酮斗争的纪念碑雕像研究:背景及其可视化
Birth defects original article series Pub Date : 2019-09-16 DOI: 10.34010/artic.2019.4.2456.193-201
Muhammad Isla
{"title":"MONUMENT STATUE STUDY OF NANI WARTABONE STRUGGLE THROUGH BACKGROUND AND ITS VISUALIZATION","authors":"Muhammad Isla","doi":"10.34010/artic.2019.4.2456.193-201","DOIUrl":"https://doi.org/10.34010/artic.2019.4.2456.193-201","url":null,"abstract":"This study aims to find out how to study the Nani Wartabone statue in terms of visuals, to provide knowledge to the people of Gorontalo the meaning of the Nani Wartabone statue and to describe the background study and visualization of the Tilongolo Nani Wartabone monument statue. This research was written using descriptive qualitative research methods, the authors observed in detail the background and visualization of the Tilongolo Nani Wartabone monument, the results of this study allow the writer to know the historical background of the Tilongolo Nani Wartabone monument statue and the writer can also know the visual meaning of the Tilongolo Monument statue Nani Wartabone. The research results obtained by the author are quite good because there are two sources who are quite helpful in the process of writing this research, the conclusion or the final result of this study is that the writer and the public can find out the background of the Nani Wartabone statue made to commemorate his services in fighting the invaders and the meaning of the visualization of the statue of the struggle of Nani Wartabone, namely: (1) The pointing hand has a meaning, namely his birthplace, Bube Village, Suwawa District, Bone Bolango Regency, Gorontalo Province; (2) Bayonet in the left pocket is made by Suwawa which has the mystical power to protect Nani Wartabone in certain situations; (3) The pistol in the right pocket is used as a helper for the main weapon in the left hand of Nani Wartabone; (4) The weapon in the left hand of Nani Wartabone is a long rifle (hunting rifle) that can be used on the battlefield; (5) The Safari uniform used by Nani Wartabone has patriotic meaning and strength; and (6) Base of 2 and the curve of base of 3 represents the number 23 celebrated as patriotic day by the people of Gorontalo.","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"119 6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88752317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
STUDY OF ORNAMENTS IN HUNTO SULTAN AMAY MOSQUE GORONTALO 哥伦塔洛苏丹清真寺装饰研究
Birth defects original article series Pub Date : 2019-09-16 DOI: 10.34010/artic.v4i0.2418
Risti Puspita Sari Hunowu
{"title":"STUDY OF ORNAMENTS IN HUNTO SULTAN AMAY MOSQUE GORONTALO","authors":"Risti Puspita Sari Hunowu","doi":"10.34010/artic.v4i0.2418","DOIUrl":"https://doi.org/10.34010/artic.v4i0.2418","url":null,"abstract":"This research is aimed at studying the Hunto Sultan Amay Mosque located in Gorontalo City. Hunto Sultan Amay Mosque is the oldest mosque in the city of Gorontalo The Hunto Sultan Amay Mosque was built as proof of Sultan Amay's love for a daughter and is a representation of Islam in Gorontalo. Researchers will investigate the visual form of the Hunto Sultan Amay Mosque which was originally like an ancient mosque in the archipelago. can be seen from the shape of the roof which initially used an overlapping roof and then converted into a dome as well as mosques in the world, we can be sure the Hunto Sultan Amay Mosque uses a dome roof after the arrival of Dutch Colonial. The researcher used a qualitative method by observing the existing form in detail from the building of the mosque with an aesthetic approach, reviewing objects and selecting the selected ornament giving a classification of the shapes, so that the section became a reference for the author as research material. Based on the analysis of this thesis, the form  of the Hunto Sultan Amay mosque as well as the mosques located in the archipelago and the existence of ornaments in the Hunto Sultan Amay Mosque as a decorative structure support the grandeur of a mosque. On the other hand, Hunto Mosque ornaments reveal a teaching. The form of a teaching is manifested in the form of motives and does not depict living beings in a realist or naturalist manner. the decorative forms of the Hunto Sultan Sultan Mosque in general tend to lead to a form of flora, geometric ornaments, and ornament of calligraphy dominated by the distinctive colors of Islam, namely gold, white, red, yellow and green.","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"12 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73283348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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