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Birth defects

Rare and novel variant load threshold for KIF7, GJA1 and PDE1C genes elevates the risk of severity of congenital heart defects in Down syndrome

Agnish Ganguly, Samudra Pal, Srilagna Chatterjee, Madhusudan Das, Sumantra Sarkar, Sujay Ghosh

published 26 Jun 2025

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Association of pulmonary artery bifurcation angle shift with contralateral stenosis after post-arterial switch in the pediatric transposition of great artery patients

Panupong Seripanu, Tanop Srisuwan, Yupada Pongprot, Rekwan Sittiwangkul, Thanaporn Phanacharoensawad, Pakpoom Wongyikul, Phichayut Phinyo, Kwannapas Saengsin

published 20 Jun 2025

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Genetic analysis and functional assessment of a TGFBR2 variant in micrognathia and cleft palate

JES-Rite Michaels, Paul P. R. Iyyanar, Ammar Husami, Andrew M. Vontell, Samantha A. Brugmann, Rolf W. Stottmann

published 09 Jun 2025

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Prevalence and trends of major congenital anomalies in Brazil: A study from 2011 to 2020

Mariana Pereira Inácio Silvestri Melkan, Ornella Scardua Ferreira, Livia Carolina Leonardo Bassan, Maria de Lourdes Brizot, Rossana Pulcineli Vieira Francisco, Agatha Sacramento Rodrigues, Mariana Azevedo Carvalho

published 06 Jun 2025

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The efficacy of velar adhesion in unilateral cleft lip and palate patients: Cleft width and otitis media with effusion

Miki Kashiwagi, Hideto Saijo, Sachi Oshima, Shota Ichikawa, Rika Narita, Kazuto Hoshi

published 28 May 2025

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Sexual and reproductive health challenges among adolescents and young people with spina bifida and hydrocephalus disability in Uganda: A qualitative study

Denis Ndekezi, Andrew Sentoogo Ssemata, Ambrose Ganshanga, Ruth Nalugya

published 27 May 2025

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Advanced heart disease classification based on multi-channel heart sound coupling features

Yu Fang, Dongbo Liu, Zijian Guo, Hongxia Leng, Xing Liu, Xiaochen Wu

published 23 May 2025

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“It’s a kind of double-edged sword”: exploring the social media-related experiences of adults with visible differences using photo-elicitation interviews

Ella Guest, Wylde Roberts-Mills, Anna Zarola, Amy Slater

published 22 May 2025

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Karyotyping with amniotic fluid in 6,572 pregnant women and pregnancy outcomes——A single-center retrospective study

Shiyu Wei, Yuan Yuan, Suhua Tu, Chunrong Pang, Maomei Chen, Min Ren

published 20 May 2025

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The differential burden of acute rhinovirus infections in children with underlying conditions

María Isabel Sánchez Códez, Isabel Benavente Fernández, Katherine Moyer, Amy L. Leber, Octavio Ramilo, Asuncion Mejias

published 14 May 2025

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Protocol for a prospective cohort study on congenital heart disease in neonates across varied altitudes in Sichuan province, China

Xianmin Wang, Jiaxin Liu, Wen Su, Beibei Liu, Lixing Li, Duo Yan, Weiyi Wan, Tongyong Luo

published 16 Apr 2025

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Novel non-synonymous and synonymous gene variants of SRD5A2 in patients with 46,XY-DSD and DSD-free subjects

Luis Ramos

published 05 Mar 2025

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Comparative performance of disability measures

Scott D. Landes, Jean P. Hall, Bonnielin K. Swenor, Nastassia Vaitsiakhovich

published 31 Jan 2025

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