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Congenital Anomalies

IF1.6
Papers27
Citations
Journal Papers 27
Publication Date
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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 Individuals
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
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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
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)
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
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 Syndrome
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
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
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
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
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 Lesions
deleteCongenital Anomalies
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
deleteCongenital Anomalies
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
deleteCongenital Anomalies
IF1.6
delete2026-01-01
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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
deleteCongenital Anomalies
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 Spectrum
deleteCongenital Anomalies
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 2021
deleteCongenital Anomalies
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 Study
deleteCongenital Anomalies
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 System
deleteCongenital Anomalies
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
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?
deleteCongenital Anomalies
IF1.6
delete2026-01-01
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PREAI
deleteTakakuwa, Tetsuya; Ishida, Nanase
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