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JOURNAL OF PEDIATRIC GENETICS
Official Journal of the World Pediatric Society, Turkiye
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Contributing Reviewers
Contributing Reviewers of 2021
Case-Based Review
Butler, Merlin G.:
Prolapsed Rectum and Risk Factors in Prader–Willi Syndrome: A Case-Based Review
Review Article
Ray, Manisha; Sarkar, Saurav; Sable, Mukund Namdev:
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations
Original Article
Rabie, Walaa; Al-Taweel, Ahmed; Abuelhamd, Walaa A.; Shahin, Walaa; Nazeer, Marian; Aly, Hany:
Erythrocyte Complement Receptor 1 Gene Polymorphisms and Neonatal Respiratory Distress Syndrome
Rojnueangit, Kitiwan; Khetkham, Thanitchet; Onsod, Preyaporn; Chareonsirisuthigul, Takol:
Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing
Dawman, Lesa; Kaur, Anit; Nada, Ritambhra; Chakraborty, Soumalya; Handa, Sanjeev; Sharawat, Indar Kumar; Tiewsoh, Karalanglin:
Autosomal Recessive Congenital Ichthyosis and Steroid-Resistant Nephrotic Syndrome due to Homozygous Mutation in the ALOX12B gene: A Novel Association with Review of Literature
Gowda, Vykuntaraju K.; Gupta, Priya; Bharathi, Narmadham K.; Bhat, Maya; Shivappa, Sanjay K.; Benakappa, Naveen:
Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India
Case Report
Al-Araimi, Musallam; Al-Hosni, Aliya; Maimani, Ashwaq Al:
A First-Case Report of Pycnodysostosis in an Omani Boy
Yano, Shoji; Moseley, Kathryn; Mahajan, Neha; Warren, Mikako; Vachon, Linda:
Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas
Schrander, Dirk E.; Staal, Heleen M.; Johnson, Colin A.; Calder, Alistair; Ghali, Neeti; Chudley, Albert E.; Stumpel, Constance T.R.M.:
Orthopaedic Aspects of SAMS Syndrome
Al-Araimi, Musallam; Hamza, Nishath; Al-Hosni, Aliya; Al Maimani, Ashwaq:
Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient
Arora, Veronica; Bijarnia-Mahay, Sunita; Saxena, K. K.; Suman, Praveen; Kukreja, Shyam:
Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis
Mastrangelo, Mario; Torres, Barbara; De Vita, Gloria; Goldoni, Marina; De Giorgi, Agnese; Bernardini, Laura; Leuzzi, Vincenzo:
Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)
Jha, Ruchika; Kovilapu, Uday B.; Devgan, Amit; Sondhi, Vishal:
Two Novel Compound Heterozygous ADGRG1/GPR56 Mutations Associated with Diffuse Cerebral Polymicrogyria
Rapid Communication
Panigrahi, Inusha; Qureshi, Yousaf; Kornak, Uwe:
Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children