Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 02 · Volume 05 · June 2016 DOI: 10.1055/s-006-31778 Hereditary Cancer Syndromes in Children Guest Editors: Nicole D. Riddle, MD, and Raul S. Gonzalez, MD Foreword 077 Gonzalez, Raul S.; Riddle, Nicole D.: Hereditary Cancer Syndromes in Children Full Text HTML PDF (28 kb) Review Article […]
Category Archives: JOURNAL
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 02 · Volume 04 · June 2015 DOI: 10.1055/s-005-29908 Prenatal Exposures and Short and Long Term Developmental Outcomes Guest Editors: Sura Alwan, PhD and Christina D. Chambers, PhD, MPH Foreword 039 Alwan, Sura; Chambers, Christina D.: Identifying Human Teratogens: An Update Full Text HTML PDF (64 […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 03 · Volume 05 · September 2016 DOI: 10.1055/s-006-32340 Review Article 129 Abbas, Elham; Cox, Devin M.; Smith, Teri; Butler, Merlin G.: The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature Full Text HTML PDF (193 kb) Original Article 141 Bugescu, Nicolle; Naylor, Paige […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 04 · Volume 05 · December 2016 DOI: 10.1055/s-006-32923 Genetic Advances in Craniofacial Malformations Guest Editors: Peter J. Taub, MD, FACS, FAAP, and Bryn D. Webb, MD, FACMG Foreword 183 Webb, Bryn D.; Taub, Peter J.: Genetic Advances in Craniofacial Malformations Full Text HTML PDF (32 […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 01 · Volume 06 · March 2017 DOI: 10.1055/s-007-33337 Advances in Pediatric Genetic Tests Guest Editor: Elizabeth McCready, PhD, FCCMG Reviewers’ List i Contributing Reviewers in 2016 Full Text HTML PDF (30 kb) Foreword 001 McCready, Elizabeth: Advances in Pediatric Genetic Testing Full Text HTML PDF […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 02 · Volume 06 · June 2017 DOI: 10.1055/s-007-33962 Original Article 061 Bick, David; Fraser, Pamela C.; Gutzeit, Michael F.; Harris, Jeremy M.; Hambuch, Tina M.; Helbling, Daniel C.; Jacob, Howard J.; Kersten, Juliet N.; Leuthner, Steven R.; May, Thomas; North, Paula E.; Prisco, Sasha Z.; […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 03 · Volume 06 · September 2017 DOI: 10.1055/s-007-34525 Erratum e1 Gaboon, Nagwa E. A.; Bakur, Khadijah H.; Edrees, Alaa Y.; Al-Aama, Jumana Y.: Erratum: Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia Full Text HTML PDF […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 04 · Volume 06 · December 2017 DOI: 10.1055/s-007-35271 Review Article 205 Chouiter, Leila; Nadifi, Sellama: Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma Full Text HTML PDF (144 kb) Original Article 215 Kammoun, Molka; Slimani, Wafa; Hannachi, Hanene; Bibi, Mohamed; Saad, Ali; […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 01 · Volume 07 · March 2018 DOI: 10.1055/s-008-38507 Reviewers’ List i Contributing Reviewers in 2017 Full Text HTML PDF (34 kb) Review Article 001 Gettelfinger, John D.; Dahl, John P.: Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics Full Text HTML PDF […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 02 · Volume 07 · June 2018 DOI: 10.1055/s-008-39819 Review Article 047 Marik, Binata; Bagga, Arvind; Sinha, Aditi; Hari, Pankaj; Sharma, Arundhati: Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update Full Text HTML PDF (452 kb) Original Article […]