Journal of Pediatric Genetics

Ausgabe 03 · September 2023

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Ausgabe
Editorial
185
Çaksen, Hüseyin: Retracted Article: A Brief View of The Prophet Ayyub's (Alayhi As-Salam) Disease: Was It Job's Syndrome?

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Review Article
187
Lubinsky, Mark: Genesis of a Fact: Tay-Sachs Disease as a “Simple Recessive”

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193
Akkuş, Nejmiye; Duman, Tuğba Akın: First Clinical Report of Two RAB3GAP1 Pathogenic Variant in Warburg Micro Syndrome FREIER ZUGRIFF

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Original Article
199
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

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206
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

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Zusatzmaterial

Supplementary Material
213
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

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Case Report
219
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

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Case-Based Review
224
Mirza, Nida; Upadhyaya, Sundeep; Mehta, Sagar; Malhotra, Smita; Sibal, Anupam: Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the TNXB Gene

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227
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

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233
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

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Case Based Review
237
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

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242
Gunes, Sevinc Odabasi; Calisici, Erhan; Arslan, Mutluay; Akin, Onur; Karagol, Belma Saygili: Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology

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246
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

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254
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

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258
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

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