DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publication Date: 12 June 2019

Publication Date: 11 June 2019

Publication Date: 04 June 2019

Case Report

Publication Date: 28 May 2019

Case Report

Vázquez-Justes, Daniel; Carreño-Gago, Lidia; García-Arumi, Elena; Traveset, Alicia; Montoya, Julio; Ruiz-Pesini, Eduardo; López, Ricard; Brieva, Luis: Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing

Original Article

del Pino, Mariana; Aza-Carmona, Miriam; Medino-Martín, David; Gomez, Abel; Heath, Karen E.; Fano, Virginia; Obregon, María Gabriela: SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation

Original Article

Publication Date: 20 April 2019

Case Report

Johannsen, Jessika; Bierhals, Tatjana; Deindl, Philipp; Hecher, Laura; Hermann, Katharina; Hempel, Maja; Kloth, Katja; Denecke, Jonas: Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

Case Report

LaBrecque, Brett; Contreras, Marioxy; Giordano, Jessica; Parravicini, Elvira: Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin–Siris Syndrome

Publication Date: 16 April 2019

Case Report

Mansour, Hicham; Sabbagh, Sandra; Bizzari, Sami; El-Hayek, Stephany; Chouery, Eliane; Gambarini, Alicia; Gencik, Martin; Mégarbané, André: The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency

Publication Date: 09 April 2019

Case Report

Yadav, Sakshi; Thakur, Seema; Kohlhase, Juergen; Bhari, Neetu; Kabra, Madhulika; Gupta, Neerja: Report of Two Novel Mutations in Indian Patients with Rothmund–Thomson Syndrome

Publication Date: 03 April 2019

Case Report

Kamranjam, Mana; Hosseini, Seyedeh Maryam; Alaei, Mohammadreza: A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report

Publication Date: 01 April 2019

Publication Date: 25 March 2019

Publication Date: 12 March 2019

Publication Date: 13 February 2019

Publication Date: 14 January 2019