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Birth defects

Bayesian polygenic risk estimation approach to nuclear families with discordant sib-pairs for myelomeningocele

Adolfo Aguayo-Gómez, Leonora Luna-Muñoz, Yevgeniya Svyryd, Luis Ángel Muñoz-Téllez, Osvaldo M. Mutchinick

published 30 Dec 2024

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The association between changes in cerebral hemodynamics and cerebrovascular complications during ECMO treatment in neonates

Jian-Feng Liu, Yi-Nan Liu, Ya-Ting Zeng, Zhe-Yuan Gao, Heng Cai, Yi-Rong Zheng, Qi-Liang Zhang, Qiang Chen

published 06 Dec 2024

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TRIO RVEMVS: A Bayesian framework for rare variant association analysis with expectation-maximization variable selection using family trio data

Duo Yu, Matthew Koslovsky, Margaret C. Steiner, Kusha Mohammadi, Chenguang Zhang, Michael D. Swartz

published 04 Dec 2024

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Microdissection testicular sperm extraction outcomes in azoospermic patients post-orchidopexy surgery: A systematic review and meta-analysis

Hao-nan He, Hong Xiao, Rui-jie Yao, Shi-jie Liao, Jun-hang Zheng, Hui-liang Zhou

published 15 Nov 2024

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Reference values of normal fetal ductus venosus Doppler flow measurements at 11–14 weeks of gestation

Shizhen Li, Haifang Wu, Linlin Zhu, Qi Li, Xiangyi Dong

published 28 Oct 2024

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Prevalence and risk of occurrence of visible birth defects in mining areas in South Kivu: A hospital-based cross-sectional study

Fabrice Gulimwentuga Cikomola, Alliance Wani Bisimwa, Arsene Daniel Nyalundja, Ernest J. Barthélemy, Bijoux Safi Matabaro, Franck Masumbuko Mukamba, Kinja Nyamugabo, Désiré Munyali Alumeti, Théophile Kabesha, Marc Miserez, Dieudonné Mushengezi Sengeyi

published 07 Oct 2024

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Pulmonary valve replacement—A 10-year single-center surgical experience in ACHD patients

Armin Darius Peivandi, Sven Martens, Anaïs Gion, Andreas Rukosujew, Sabrina Martens

published 04 Oct 2024

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Anorectal Malformations (ARM) and associated maternal factors among children at Tikur Anbessa Specialized Hospital and St. Paul’s Hospital Millennium Medical College, Addis Ababa, Ethiopia: An unmatched case-control study

Samrawit Solomon, Fisseha Temesgen, Solomon Tibebu, Hana Abebe, Girma Seyoum

published 20 Sep 2024

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Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve

Steven G. Carlisle, Hasan Albasha, Hector I. Michelena, Anna Sabate-Rotes, Lisa Bianco, Julie De Backer, Laura Muiño Mosquera, Anji T. Yetman, Malenka M. Bissell, Maria Grazia Andreassi, Ilenia Foffa, Dawn S. Hui, Anthony Caffarelli, Yuli Y. Kim, Dongchuan Guo, Rodolfo Citro, Margot De Marco, Justin T. Tretter, Kim L. McBride, Dianna M. Milewicz, Simon C. Body, Siddharth K. Prakash, EBAV Investigators , BAVCon Investigators

published 06 Sep 2024

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Comparison of early and fully expanded blastocysts on pregnancy and birth outcomes in patients with fresh IVF/ICSI cycles: A retrospective cohort study

Xiaoqin Pan, Yuanping Zhou, Liwen Shen

published 29 Aug 2024

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Zbtb11 interacts with Otx2 and patterns the anterior neuroectoderm in Xenopus

Yumeko Satou-Kobayashi, Shuji Takahashi, Yoshikazu Haramoto, Makoto Asashima, Masanori Taira

published 31 Jul 2024

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Newborn screening analytes and structural birth defects among 27,000 newborns

Philip J. Lupo, Natalie P. Archer, Rachel D. Harris, Lisa K. Marengo, Jeremy M. Schraw, Adrienne T. Hoyt, Susan Tanksley, Rachel Lee, Margaret Drummond-Borg, Debra Freedenberg, Priya B. Shetty, A. J. Agopian, Charles Shumate, Sonja A. Rasmussen, Peter H. Langlois, Mark A. Canfield

published 05 Jul 2024

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Initial clubfoot treatment in Sweden from 2016 to 2019: A national register study

Arne Johansson, Henrik Wallander, Anna-Clara Esbjörnsson

published 26 Jun 2024

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