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Birth defects

Characteristic Face: A Key Indicator for Direct Diagnosis of 22q11.2 Deletions in Chinese Velocardiofacial Syndrome Patients

Dandan Wu, Yang Chen, [ ... ], Guomin Wang

Pituitary Stalk Interruption Syndrome in 53 Postpubertal Patients: Factors Influencing the Heterogeneity of Its Presentation

Luu-Ly Pham, Pierre Lemaire, [ ... ], Raja Brauner

The Effects of Periconceptional Risk Factor Exposure and Micronutrient Supplementation on Birth Defects in Shaanxi Province in Western China

Wenfang Yang, Lingxia Zeng, [ ... ], Hong Yan

The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis

Klaartje van Engelen, Mathilda T. M. Mommersteeg, [ ... ], Alex V. Postma

Feasibility and Safety of Transthoracic Echocardiography-Guided Transcatheter Closure of Atrial Septal Defects with Deficient Superior-Anterior Rims

Gui-Shuang Li, Hai-De Li, [ ... ], Yun Zhang

Gender Differences and Role of Pregnancy in the History of Post-Surgical Women Affected by Tetralogy of Fallot

Luciano Daliento, Lucia Dal Bianco, [ ... ], Giulio Rizzoli

Low Frequency Vibrations Induce Malformations in Two Aquatic Species in a Frequency-, Waveform-, and Direction-Specific Manner

Laura N. Vandenberg, Claire Stevenson, Michael Levin

Functional Significance of SRJ Domain Mutations in CITED2

Chiann-mun Chen, Jamie Bentham, [ ... ], Shoumo Bhattacharya

Direct Assessment of the Effect of the Gly380Arg Achondroplasia Mutation on FGFR3 Dimerization Using Quantitative Imaging FRET

Jesse Placone, Kalina Hristova

Methodological Approaches to Evaluate Teratogenic Risk Using Birth Defect Registries: Advantages and Disadvantages

Fernando A. Poletta, Jorge S. López Camelo, [ ... ], Pierpaolo Mastroiacovo

Contribution of Rare Copy Number Variants to Isolated Human Malformations

Clara Serra-Juhé, Benjamín Rodríguez-Santiago, [ ... ], Luis A. Pérez-Jurado

Association of the Maternal MTHFR C677T Polymorphism with Susceptibility to Neural Tube Defects in Offsprings: Evidence from 25 Case-Control Studies

Lifeng Yan, Lin Zhao, [ ... ], Peng Zhao

Maternal Transmission Effect of a PDGF-C SNP on Nonsyndromic Cleft Lip with or without Palate from a Chinese Population

Di Wu, Mei Wang, [ ... ], Zhenmin Zhao

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