DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publication Date: 12 March 2019

Publication Date: 13 February 2019

Publication Date: 30 January 2019

Publication Date: 14 January 2019

Publication Date: 02 January 2019

Original Article

González-del Angel, Ariadna; Fernández-Hernández, Liliana; Sánchez-Verdiguel, Iraís; González-Núñez, Aidy; Martínez-Cruz, Víctor; Sánchez, Carmen; Moreno-Rojas, Rosario; Alcántara-Ortigoza, Miguel Angel: Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population

Publication Date: 18 December 2018

Case Report

Savasta, Salvatore; Bassanese, Francesco; Buschini, Chiara; Foiadelli, Thomas; Trabatti, Chiara; Efthymiou, Stephanie; Salpietro, Vincenzo; Houlden, Henry; Simoncelli, Annamaria; Marseglia, Gian Luigi: Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature

Publication Date: 18 November 2018

Case Report

Satapathy, Amit Kumar; Pandey, Swati; Chaudhary, Madhumita Roy; Bagga, Arvind; Kabra, Madhulika; Uwe, Kornak; Gupta, Neerja: Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency

Case Report

Publication Date: 02 November 2018

Case Report

Ardhanari, Mohanageetha; Barbouth, Deborah; Swaminathan, Sethuraman: Early-Onset Marfan Syndrome: A Case Series

Publication Date: 26 October 2018

Case Report

Gharesouran, Jalal; Esfahani, Behnaz Salek; Valilou, Saeed Farajzadeh; Moradi, Mohsen; Mousavi, Mir Hadi; Rezazadeh, Maryam: First Report of Congenital Short Bowel Syndrome in an Iranian Patient Caused by a Mutation in the CLMP Gene

Case Report

Radha Rama Devi, Akella; Kadali, Srilatha; Radhika, Ananthaneni; Singh, Vineeta; Kumar, M Aravind; Reddy, Gummadi Maheshwar; Naushad, Shaik Mohammad: Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene

Publication Date: 13 October 2018

Publication Date: 21 September 2018

Case Report

Canter, Jennifer; Rao, Vinod B.; Palusci, Vincent J.; Kronn, David; Manaster, Michal; Altman, Robin: Interpreting Osteogenesis Imperfecta Variants of Uncertain Significance in the Context of Physical Abuse: A Case Series