Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 01 · Volume 05 · March 2016 DOI: 10.1055/s-006-31188 Genetic Advances in Childhood Nephrological Disorders Guest Editor: Patrick D. Brophy, MD, MHCDS i Contributing Reviewers in 2015 Full Text HTML PDF (25 kb) Foreword 001 Brophy, Patrick D.: Genetic Advances in Childhood Nephrological Disorders Full Text […]
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Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 03 · Volume 04 · September 2015 DOI: 10.1055/s-005-30634 Genetic Advances in Intellectual Disability Guest Editor: Donatella Milani, MD Foreword 125 Milani, Donatella; Ronzoni, Luisa; Esposito, Susanna: Genetic Advances in Intellectual Disability Full Text HTML PDF (60 kb) Review Article 128 Carvill, Gemma L.; Mefford, Heather […]
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 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 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 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 […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 03 · Volume 07 · September 2018 DOI: 10.1055/s-008-41068 Erratum e1 Camacho-Cruz, Jhon; Gutierrez, Luz Dary; Rubio, Cladelis; Suárez, Alfonso; Amaya, Angie: Erratum: Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family Full Text HTML PDF (23 kb) Original Article 097 Radha […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 04 · Volume 07 · December 2018 DOI: 10.1055/s-008-41866 Review Article 143 Heathfield, Laura Jane; Martin, Lorna Jean; Ramesar, Raj: A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases Full Text HTML PDF (184 kb) Original Article 150 Badawy, Magda; Mosallam, Dalia S.; […]