Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 02 · Volume 02 · June 2013 DOI: 10.1055/s-005-29729 Review Article 053 Recker, Florian; Reutter, Heiko; Ludwig, Michael: Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects Full Text PDF (154 kb) 069 Santos, Izabela R.; Fernandes, Ana Paula; Sousa, Marinez O.; Ferreira, Cláudia […]
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 03 · Volume 02 · September 2013 DOI: 10.1055/s-005-29730 113 Soellner, Lukas; Spengler, Sabrina; Begemann, Matthias; Wollmann, Hartmut A.; Binder, Gerhard; Eggermann, Thomas: IGF1R mutation analysis in short children with Silver-Russell syndrome features Full Text PDF (779 kb) 119 Vidal, Adriana C.; Overcash, Francine; Murphy, Susan […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 04 · Volume 02 · December 2013 DOI: 10.1055/s-005-29731 173 Vendramini-Pittoli, Siulan; Guion-Almeida, Maria L.; Richieri-Costa, Antonio; Santos, Juliana M.; Kokitsu-Nakata, Nancy M.: Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases Full Text PDF (1283 kb) 181 Chida, […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 01 · Volume 03 · March 2014 DOI: 10.1055/s-005-29732 Review 001 Dutta, Usha R.: Precision in chromosome identification with leads in molecular cytogenetics: An illustrated review Full Text PDF (169 kb) 009 Akrami, Seyed Mohammad; Habibi, Laleh: Retrotransposons and pediatric genetic disorders: Importance and implications Full […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 02 · Volume 03 · June 2014 DOI: 10.1055/s-005-29733 Ciliopathies Guest Editorial 047 Mans, Dorus A.; Arts, Heleen H.: Medical genetics of ciliopathies Full Text PDF (26 kb) Review Article 049 Schmidts, Miriam: Clinical genetics and pathobiology of ciliary chondrodysplasias Full Text PDF (725 kb) 065 […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 03 · Volume 03 · September 2014 DOI: 10.1055/s-005-29734 Review Article 141 Avina Fierro, Jorge Arturo; Avina, Daniel Alejandro Hernández: Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism Full Text PDF (303 kb) 147 Au, Jacky; Berkowitz-Sutherland, Laura; Schneider, Andrea; Schweitzer, Julie B.; […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 04 · Volume 03 · December 2014 DOI: 10.1055/s-005-29559 Pediatric Genetic Eye Disease Review Article 185 Patel, Mansi; Ramasubramanian, Aparna: Introduction to pediatric genetic eye diseases Full Text PDF (71 kb) 195 Fecarotta, Christopher M.; Huang, Wendy W.: Pediatric genetic disease of the cornea Full Text […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 01 · Volume 04 · March 2015 DOI: 10.1055/s-005-29742 i Contributing Reviewers in 2014 Full Text HTML PDF (33 kb) Review Article 001 Zayed, Hatem: Krabbe Disease in the Arab World Full Text HTML PDF (148 kb) 009 Sweeney, Walter M.; Lanier, Steve T.; Purnell, Chad […]
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 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 […]