DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

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

Contributing Reviewers

  • i

    Contributing Reviewers of 2021

    • Case-Based Review

  • 001
    Butler, Merlin G.:

    Prolapsed Rectum and Risk Factors in Prader–Willi Syndrome: A Case-Based Review

    • Review Article

  • 005
    Ray, Manisha; Sarkar, Saurav; Sable, Mukund Namdev:

    Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations

    • 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

    Supplementary Material (PDF)
  • 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)

    Supplementary Material (PDF)
  • 074
    Jha, Ruchika; Kovilapu, Uday B.; Devgan, Amit; Sondhi, Vishal:

    Two Novel Compound Heterozygous ADGRG1/GPR56 Mutations Associated with Diffuse Cerebral Polymicrogyria

    • Rapid Communication

  • 081
    Panigrahi, Inusha; Qureshi, Yousaf; Kornak, Uwe:

    Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children