Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 04 · Volume 13 · December 2024 DOI: 10.1055/s-014-60527 Review Article 253 Finsterer, Josef: Phenotypic Heterogeneity of the Mitochondrial DNA Variant m.13513 G > A Full Text HTML PDF (223 kb) Original Article 258 Dhiman, Shalini; Panigrahi, Inusha; Sharma, Maryada; Chaudhry, Chakshu; Garg, Mahak: TWIST1 Gene Variants Cause […]
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 01 · March 2012 DOI: 10.1055/s-005-29725 Foreword 001 Slavotinek, Anne M.: A much needed new journal in the field of Pediatric Genetics Full Text PDF (31 kb) Editorial 003 Levin-Iaina, Nomy; Dinour, Dganit: Renal disease with OCRL1 mutations: Dent-2 or Lowe syndrome? Full […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 02 · Volume 01 · June 2012 DOI: 10.1055/s-005-29726 Editorial 069 Faith, Myles S.: Electronic medical records, genetics, and childhood obesity: A new direction for scientific discovery? Full Text PDF (39 kb) Review Article 071 Gabbett, Michael T.: The oculoauriculovertebral spectrum: Refining the estimate of birth […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 03 · Volume 01 · September 2012 DOI: 10.1055/s-005-29727 Editorial 149 Andrade, Edgard; Williams, Charles: The importance of developing novel diagnostic tools for congenital metabolic disorders Full Text PDF (41 kb) 153 Lindau-Shepard, Barbara; Janik, David K.; Pass, Kenneth A.: A microsphere-based assay for mutation analysis […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 04 · Volume 01 · December 2012 DOI: 10.1055/s-005-29728 Review Article 209 Ludwig, Michael; Reutter, Heiko: Genome-wide array data and next generation sequencing unravel the etiology of urogenital malformations Full Text PDF (85 kb) 217 Akrami, Seyed Mohammad: Genetics of consanguineous marriage: Impact and importance of […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 01 · Volume 02 · March 2013 DOI: 10.1055/s-005-29552 Review Article 001 Nagy, Bálint: Application of real-time polymerase chain reaction in the clinical genetic practice Full Text PDF (725 kb) 009 Hartsfield, James K.; Morford, Lorri A.; Otero, Liliana M.; Fardo, David W.: Genetics and non-syndromic […]
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 […]
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 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 […]