Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 04 · Volume 04 · December 2015 DOI: 10.1055/s-005-30588 Original Article 187 Khelifa, Hela Ben; Kammoun, Molka; Hannachi, Hanene; Soyah, Najla; Hammami, Saber; Elghezal, Hatem; Sanlaville, Damien; Saad, Ali; Mougou-Zerelli, Soumaya: Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits Full Text HTML […]
Kategori Arşivleri: Journal of Pediatric Genetics
The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects, and current comprehensive coverage of the latest techniques in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines that work in the field of pediatric genetics.
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 […]
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 […]
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 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 […]