Journal of Pediatric Genetics

Kresak, Jesse Lee; Walsh, Meggen: Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis

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

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

Correa, Hernán: Li–Fraumeni Syndrome

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

Waller, Alexia; Findeis, Sarah; Lee, Michael J.: Familial Adenomatous Polyposis

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

Alwan, Nisreen A.; Hamamy, Hanan: Maternal Iron Status in Pregnancy and Long-Term Health Outcomes in the Offspring

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

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