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Congenital Anomalies

IF1.6
论文数27
被引数
期刊论文 27
发表时间
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Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous IndividualsHDAC8内含子变异c.112-15C>A导致剪接异常，在杂合子和半合子个体中引起家族性科恩综合征
deleteCongenital Anomalies
IF1.6
delete2026-05-20
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PREAI
deleteKuroda, Yukiko; Nagai, Koki; Saito, Yoko; Shimokaze, Tomoyuki; Aida, Noriko; Satake, Tomoko; Naruto, Takuya; Kurosawa, Kenji
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Clinical and Genetic Findings in Two Japanese Individuals With SET-Related Neurodevelopmental Disorder两名具有SET相关神经发育障碍的日本个体的临床和遗传学发现
deleteCongenital Anomalies
IF1.6
delete2026-05-15
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PREAI
deleteNishi, Eriko; Yanagi, Kumiko; Kaname, Tadashi; Okamoto, Nobuhiko
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Urinary Metabolic Screening Misled the Molecular Diagnosis of Xia-Gibbs Syndrome尿代谢筛查误导了Xia-Gibbs综合征的分子诊断
deleteCongenital Anomalies
IF1.6
delete2026-05-13
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PREAI
deleteEnomoto, Sayaka; Nagata, Toru; Inoue, Takushi; Takenouchi, Toshiki
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Cohort Study of Pregnancy Outcomes After Exposure to Fexofenadine or Olopatadine in the First Trimester (vol 66, e70056, 2026)第一孕期暴露于非索非那定或奥洛他定后的妊娠结局队列研究（卷 66，e70056，2026）
deleteCongenital Anomalies
IF1.6
delete2026-05-12
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PREAI
deleteKaori; Yamazaki; Mikako; Goto; Sachi; Koinuma; Shingo; Atsuko; Murashima; Itsuko
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Synergistic Role of Retinoid and Gata3 Signaling in Olfactory Epithelium Development视黄酸和Gata3信号在嗅觉上皮发育中的协同作用
deleteCongenital Anomalies
IF1.6
delete2026-05-09
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PREAI
deleteMatsushita, Ayaka; Tsujimoto, Takayuki; Xiuping, Nie; Omi-Sugihara, Maiko; Xu, Lin; Mithun, Saha; Natsuyama, Shota; Ohara, Haruka; Koga, Satoshi; Inubushi, Toshihiro; Sandell, Lisa L.; Trainor, Paul A.; Yamashiro, Takashi; Kurosaka, Hiroshi
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Hypoplastic Left Heart Syndrome Variant With Unexpected Early Sudden Death in a Newborn Infant With ZTTK SyndromeZTTK综合征新生儿中伴有意外早期猝死的左心发育不良综合征变异体
deleteCongenital Anomalies
IF1.6
delete2026-04-29
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PREAI
deleteOkamoto, Kengo; Nakato, Daisuke; Kataoka, Koichi; Nakagawa, Naomi; Takenouchi, Toshiki
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A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia先天性Geleophysic发育不良1型的新生儿表现：一例强调与Al-Gazali骨骼发育不良表型重叠的病例报告
deleteCongenital Anomalies
IF1.6
delete2026-04-22
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PREAI
deleteShimura, Kazuhiro; Tsujioka, Yuko; Kijima, Toshihide; Ichihashi, Yosuke; Kushima, Reiko; Nishimura, Gen; Hasegawa, Tomonobu; Narumi, Satoshi
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Two Cases of Prenatally Suspected Fetal Bartter Syndrome With a Novel Genetic Variant Indicated by Polyhydramnios and Amniotic Fluid Biochemistry产前疑似胎儿巴特综合征的两例病例报告：羊水过多和羊水生物化学指标提示一种新型遗传变异
deleteCongenital Anomalies
IF1.6
delete2026-04-19
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PREAI
deleteIto, Tomomichi; Watanabe, Norikazu; Yamanouchi, Keiko; Nagase, Satoru
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Cohort Study of Pregnancy Outcomes After Exposure to Fexofenadine or Olopatadine in the First Trimester对孕期头三个月接触非索非那定或奥洛他定后妊娠结局的队列研究
deleteCongenital Anomalies
IF1.6
delete2026-04-18
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PREAI
deleteYamazaki, Kaori; Goto, Mikako; Koinuma, Sachi; Hishinuma, Kayoko; Yamazaki, Shingo; Murashima, Atsuko; Ishii, Itsuko
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A Novel MAF Variant Causing Ayme-Gripp Syndrome With Transient Anemia一种导致艾梅-格里普综合征并伴有暂时性贫血的新型MAF变异体
deleteCongenital Anomalies
IF1.6
delete2026-01-01
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PREAI
deleteHara, Masateru; Morisawa, Takeshi; Hasegawa, Daiichiro; Nozu, Kandai; Morisada, Naoya
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A Case of HNRNPU-Related Neurodevelopmental Disorder Presenting With Acute Encephalopathy and Basal Ganglia LesionsHNRNPU相关神经发育障碍一例，表现为急性脑病和基底节病变
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IF1.6
delete2026-01-01
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PREAI
deleteNagara, Syunsuke; Shinoda, Jiro; Fujiki, Shungo; Tannaka, Emi; Usui, Shinji; Kawashiri, Miwa; Imamura, Atsushi; Yamagishi, Atsushi
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Evaluation and Management of Rectoperineal Fistula in Male Children: An Observational Study男性儿童直肠会阴瘘的评价与管理：一项观察性研究
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IF1.6
delete2026-01-01
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PREAI
deletePatel, Kriti; Pandey, Anand; Pant, Nitin; Singh, Gurmeet; Rai, Rahul Kumar; Rawat, Jiledar
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Refining the Neonatal Phenotypic Spectrum of Distal Deletion 14q Syndrome: Early Genomic Diagnosis in Infancy完善远端14q缺失综合征的婴儿表型谱：婴儿期早期基因组诊断
deleteCongenital Anomalies
IF1.6
delete2026-01-01
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deleteOAAI
deleteNakae, Koji; Hamada, Shiori; Kawamura, Junpei; Ueno, Kentaro; Takenouchi, Toshiki; Okamoto, Yasuhiro
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Prevalence of Congenital Abnormalities in Abortuses and Stillbirths in India: A Systematic Review and Meta-Analysis印度流产和死胎中先天性异常的患病率：一项系统综述和荟萃分析
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IF1.6
delete2026-01-01
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PREAI
deleteDas, Sushant Swaroop; Sharma, Shalika; Mahajan, Reeha; Kaushal, Sushruti; Sharma, Manupriya; Singh, Harsimranjit; Ramkumar, M.
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A Novel In-Frame Deletion of FLNA in X-Linked Cardiac Valvular Dysplasia With Variable Clinical SpectrumX连锁心脏瓣膜发育不良中FLNA基因的一种新型框内缺失及其可变临床谱
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IF1.6
delete2026-01-01
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PREAI
deleteUchida, Noboru; Ohara, Osamu; Yukisawa, Seigo; Takahashi, Tsutomu
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Worldwide Burden of Urogenital Congenital Anomalies Across Childhood and Adolescence, 1990-2021: Results From the Global Burden of Disease Study 20211990-2021年全球儿童和青少年泌尿生殖系统先天性畸形负担：全球疾病负担研究2021的结果
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IF1.6
delete2026-01-01
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PREAI
deleteLuo, Jie; Luo, Xi
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Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective StudyCurrarino综合征的临床多样性：来自单卵双胞胎和单中心回顾性研究的见解
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IF1.6
delete2026-01-01
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PREAI
deleteWang, Xinyao; Min, Lingzhao; Bao, Lei; Wei, Jia; Wang, Xiaoqiang
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Recurrent Pneumothorax in PIEZO2-Related Arthrogryposis: Implications for the Mechanosensory Function of PIEZO2 in the Respiratory SystemPIEZO2相关关节挛缩症中的复发性气胸：对呼吸系统中PIEZO2力学感觉功能的启示
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IF1.6
delete2026-01-01
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deleteOAAI
deleteNakato, Daisuke; Ono, Ikumi; Misu, Kumiko; Miya, Fuyuki; Kosaki, Kenjiro
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DNA Methylation Profiles in Diabetic Embryos糖尿病胚胎中的DNA甲基化谱
deleteCongenital Anomalies
IF1.6
delete2026-01-01
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PREAI
deleteLi, Pu-Yu; Zhao, Fu-Li; Song, Yi-Juan; Lei, Bing-Yao; Niu, Hao-Jin; Wang, Ying-Fang; Jiang, Hong-Wei
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How Does the Human Herniated Midgut Loop Return to the Abdominal Cavity?人类疝出的中肠袢如何返回腹腔？
deleteCongenital Anomalies
IF1.6
delete2026-01-01
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PREAI
deleteTakakuwa, Tetsuya; Ishida, Nanase
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