Duman, Tuğba Akın:


First Clinical Report of Two

RAB3GAP1

Pathogenic Variant in Warburg Micro Syndrome

Srinivas, Sahana M.;

Gupta, Priya;

Srinivasan, Varunvenkat M.;

Shivappa, Sanjay K.;

Vishwanathan, Gurudatta B.:


Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases

Brady, Lauren I.;

Rouse, Nicholas A.;

Nagy, Peter;

Tarnopolsky, Mark A.:


The Efficacy of Whole Genome Sequencing and RNA-Seq in the Diagnosis of Whole Exome Sequencing Negative Patients with Complex Neurological Phenotypes

Srinivasan, Varunvenkat M.;

Jetha, Kapil;

Sugumar, Kiruthiga;

Bhat, Meenakshi;

Shivappa, Sanjay K.;

Bhat, Maya;

Christopher, Rita:


Case Series of Ethylmalonic Encephalopathy from Southern India

Pasca, Ludovica;

Zanaboni, Martina Paola;

Varesio, Costanza;

Rognone, Elisa;

Totaro, Martina;

Gana, Simone;

Rossi, Elena;

De Giorgis, Valentina:


Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report

Upadhyaya, Sundeep;

Mehta, Sagar;

Malhotra, Smita;

Sibal, Anupam:


Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the

TNXB

Gene

Colón-Fontánez, Francisco;

López, Maricarmen;

Puig-Ramos, Gilberto:


Deficiency of Interleukin-1 Receptor Antagonist: New Genetic Autoinflammatory Disease as a Diagnostic Challenge for Pediatricians

Thakur, Seema;

Kapoor, Aakar;

Kapoor, Sunita;

Kalra, Apurva;

Kapoor, Aakriti:


Neu–Laxova’s Syndrome: A Case Report of a Fetus with Novel Mutation in

PHGDH

Gene and a Literature Review

Enterría-Rosales, Julia;

Juárez-Vignon-Whaley, Juan José;

García-Sánchez, Julián;

Treviño-Velasco, Rodrigo;

Cervera-Gaviria, Jaime:


Novel Radiological Brain Anomalies in a Patient with Congenital Muscular Dystrophy due to FKRP Mexican Founder Mutation c.1387A > G: Review of the Literature

Calisici, Erhan;

Arslan, Mutluay;

Akin, Onur;

Karagol, Belma Saygili:


Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology

Gupta, Anita;

Bove, Kevin E.;

Szabo, Sara;

Xu, Fang;

Krentz, Anthony;

Shillington, Amelle L.:


Novel Pathogenic

DNAH5

Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis

Patricia, Pérez Mohand;

Lezana, José M.;

Cruz, Jaime;

Quesada, Juan F.;

Vila, Sara;

Álvarez-Mora, Isabel;

Arteche-López, Ana;

Gómez-Manjón, Irene;

Sánchez, M. Teresa;

Gómez-Rodríguez, Maria José;

Sánchez, Jaime;

Moreno-García, Marta:


A Novel Pathogenic Variant in the

MN1

Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome

Costa, Carmen;

Pinto, Miguel;

Taipa, Ricardo;

Gonçalves, Ana;

Oliveira, Márcia E.;

Ferreira, Sofia;

Ribeiro, Joana Afonso:


X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy