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JOURNAL OF PEDIATRIC GENETICS
Official Journal of the World Pediatric Society, Turkiye
LAST ISSUE
Contributing Reviewers in 2023
Original Article
Al-Kasbi, Ghalia;Al-Murshedi, Fathiya;Al-Futaisi, Amna;Al-Jabry, Tariq;Zadjali, Fahad;Al-Yahyaee, Said;Al-Maawali, Almundher:
Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase (ASNS) Gene
Kaur, Anupriya;Chaudhry, Chakshu;Kaur, Parminder;Daniel, Roshan;Srivastava, Priyanka:
Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy
Belghiti, Hanae Daha;Abbassi, Meriame;Sayel, Hanane;Ahakoud, Mohamed;El Makhzen, Badr Eddine;Lee, Norman;Russo, Silvia;Chaouki, Sana;Bouguenouch, Laila:
Impact of Deletion on Angelman Syndrome Phenotype Variability: Phenotype–Genotype Correlation in 97 Patients with Motor Developmental Delay
Sait, Haseena;Srivastava, Somya;Kumar, Somesh;Varughese, Bijo;Pandey, Manmohan;Venkatramaiah, Manjunath;Chaudhary, Parul;Moirangthem, Amita;Mandal, Kausik;Kapoor, Seema:
Inborn Errors of Ketogenesis: Novel Variants, Clinical Presentation, and Follow-Up in a Series of Four Patients
Pendleton, Katherine E.;Hernandez-Garcia, Andres;Lyu, Jennifer M.;Campbell, Ian M.;Shaw, Chad A.;Vogt, Julie;High, Frances A.;Donahoe, Patricia K.;Chung, Wendy K.;Scott, Daryl A.:
FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia
Case-Based Review
Jain, Geetanjali;Das, Gourab;Malhotra, Rakhi;Ramchandran, Sateesh;Phani, Nagaraja M.;Appaswamy, Giridharan;Sridharan, Upasana;Dwivedi, Aradhana:
Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 (TRPM6) Gene
de Brito Chagas, Joana;Cordinhã, Carolina;do Carmo, Carmen;Alves, Cristina;Heath, Karen E.;Sousa, Sérgio B.;Gomes, Clara:
Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population
Aylan Gelen, Sema;Kara, Bülent;Eser Şimsek, Isil;Güngör, Mesut;Zengin, Emine;Sarper, Nazan:
Autoimmune Hemolytic Anemia Due to Spondyloenchondrodysplasia with Spastic Paraparesis and Intracranial Calcification due to Mutation in ACP5
de Souza, Mateus A.;Hartmann, Jéssica K.;Zottis, Laira F. F.;Gama, Thiago K. K.;Rosa, Ernani B. da;Zen, Paulo R. G.;Rosa, Rafael F. M.:
Laryngotracheomalacia in a Patient with Mosaic Trisomy 8
Nilay, Mayank;Rawool, Anup;Mandal, Kausik:
Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)—A Case Series with Recurrent c.740_741del Variant
Öztürk, Özden;Bagis, Haydar;Bolu, Semih:
Osteogenesis Imperfecta and Split Foot Malformation due to 7q21.2q21.3 Deletion Including COL1A2, DLX5/6 Genes: Review of the Literature