Journal of Pediatric Genetics

Alwan, Sura; Chambers, Christina D.: Identifying Human Teratogens: An Update

Correa, Hernán: Li–Fraumeni Syndrome

Gowda, Vykuntaraju K.; K., Anusha Raj; Srinivasan, Varunvenkat M.; Vamyanmane, Dhananjaya K.; Srinivas, Sahana M.; Chickabasaviah, Yasha; Santhoshkumar, Rashmi; Mittal, Pallavi; Chikara, Surendra K.; Vishwanathan, Gurudatta Baraka: A Rare Case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1), Complex 1 Mitochondrial Deficiency, and Mixed Variant—Checkerboard and Phylloid Type of Pigmentary Mosaicism

Huang, Yi Juan; Jia, Rong Pu; Chen, Yuan Qiu; Zhou, Liang Ji; Gou, Chen Yu; Fan, Mei Qiong; Li, Si; Chen, Maofa; Lin, Hua Ming; Gao, Yu: Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder

Kannan, Balachander; Navamani, Hepzibah Kirubamani; Jayaseelan, Vijayashree Priyadharsini; Arumugam, Paramasivam: A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype–Phenotype Analysis

Yazdy, Mahsa M.; Desai, Rishi J.; Brogly, Susan B.: Prescription Opioids in Pregnancy and Birth Outcomes: A Review of the Literature

Ibarra-Ramírez, Marisol; Campos-Acevedo, Luis Daniel; Martínez de Villarreal, Laura E.: Chromosomal Abnormalities of Interest in Turner Syndrome: An Update

Ayaz, Akif; Doğru, Zeynep; Kök, Kıvanç; Bayram, Nihan; Yaman, Yöntem; Köseoğlu, Abdullah Hüseyin; Yiğitbaşı, Türkan; Öztürk Demir, Aslı Güner; Yüksel, Elçin; Dundar, Burcu; Çaralan, Erdal Fırat; Nepesov, Serdar; Elli, Murat: A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure: RASA3

Kaur, Anupriya; Chaudhry, Chakshu; Kaur, Parminder; Daniel, Roshan; Srivastava, Priyanka: Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy

Bangalore, Raghunath V; Asthana, Suramya; R., Reshma V.; Saini, Deepak Kumar; Alladi, Anand: Understanding the Endocrine and Molecular Signaling Cascade Regulation Pathways in Children with Hypospadias