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 […]
Category Archives: JOURNAL
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 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 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 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 […]