Journal of Pediatric Genetics

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

Arican, Pinar; Cavusoglu, Dilek; Gencpinar, Pinar; Ozyilmaz, Berk; Ozdemir, Taha Resid; Dundar, Nihal Olgac: A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum

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

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

Zubaidi, Abdulqader Al; Al-Shamsi, Aisha: A Novel Missense Heterozygous Mutation in NKX2-5 Gene in a Family with Congenital Septal Defects and Cardiomyopathy: Case Series and Literature Review

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

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

Lubinsky, Mark: Genesis of a Fact: Tay-Sachs Disease as a “Simple Recessive”

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