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JOURNAL OF PEDIATRIC GENETICS
Official Journal of the World Pediatric Society, Turkiye
LAST ISSUE
Çaksen, Hüseyin:
A Brief View of The Prophet Ayyub's (Alayhi As-Salam) Disease: Was It Job's Syndrome?
Review Article
Lubinsky, Mark:
Genesis of a Fact: Tay-Sachs Disease as a “Simple Recessive”
Akkuş, Nejmiye;Duman, Tuğba Akın:
First Clinical Report of Two RAB3GAP1 Pathogenic Variant in Warburg Micro Syndrome
Original Article
Gowda, Vykuntaraju K.;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
Blake, Bianca;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
Gowda, Vykuntaraju K.;Srinivasan, Varunvenkat M.;Jetha, Kapil;Sugumar, Kiruthiga;Bhat, Meenakshi;Shivappa, Sanjay K.;Bhat, Maya;Christopher, Rita:
Case Series of Ethylmalonic Encephalopathy from Southern India
Case Report
Parravicini, Stefano;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
Case-Based Review
Mirza, Nida;Upadhyaya, Sundeep;Mehta, Sagar;Malhotra, Smita;Sibal, Anupam:
Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the TNXB Gene
Rivera-Sepulveda, Andrea;Colón-Fontánez, Francisco;López, Maricarmen;Puig-Ramos, Gilberto:
Deficiency of Interleukin-1 Receptor Antagonist: New Genetic Autoinflammatory Disease as a Diagnostic Challenge for Pediatricians
Kapoor, Ravi;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
Case Based Review
Cervera-Gaviria, Marivi;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
Gunes, Sevinc Odabasi;Calisici, Erhan;Arslan, Mutluay;Akin, Onur;Karagol, Belma Saygili:
Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology
Lin, Hong T.;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
Palma Milla, Carmen;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
Carvalho, Andreia;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