DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 01 · Volume 11 · März 2022 · Kostenlose Probeausgabe DOI: 10.1055/s-012-52825

Contributing Reviewers

Case-Based Review

Review Article

005

Original Article

015
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
022
Rojnueangit, Kitiwan; Khetkham, Thanitchet; Onsod, Preyaporn; Chareonsirisuthigul, Takol: Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing
028
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
034
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

042
Al-Araimi, Musallam; Al-Hosni, Aliya; Maimani, Ashwaq Al: A First-Case Report of Pycnodysostosis in an Omani Boy
047
Yano, Shoji; Moseley, Kathryn; Mahajan, Neha; Warren, Mikako; Vachon, Linda: Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas
051
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
059
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
063
Arora, Veronica; Bijarnia-Mahay, Sunita; Saxena, K. K.; Suman, Praveen; Kukreja, Shyam: Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis
068
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)

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