DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 03 · Volume 11 · September 2022 DOI: 10.1055/s-012-54687

Original Article

  • 173
    Abdellatif, May A.K.; Eyada, Eman; Rabie, Walaa; Abdelaziz, Azza; Shahin, Walaa:

    Genetic and Biochemical Predictors of Neonatal Bronchopulmonary Dysplasia

  • 179
    Elangovan, Bharathi; N.T, Rajesh; Subrahmanian, Meenu:

    Apolipoprotein-E Gene Polymorphism and Lipid Composition among IUGR and AGA Neonates

  • 185
    Singh, Akanksha; Singh, Ankur; Mishra, Om Prakash; Prasad, Rajniti; Narayan, Gopeshwar; Batra, Vineeta V; Tabatabaeifar, Mansoureh; Schaefer, Franz:

    Molecular Study of Childhood Steroid-Resistant Nephrotic Syndrome: A Hospital-Based Study

  • 192
    Eldem, Aslı; Ayna, Tülay Kılıçaslan; Baran, Maşallah; Soyöz, Mustafa; Pirim, İbrahim:

    Determination of High-Resolution HLA-DQB1 Suballeles and IL-17 Polymorphisms in Turkish Pediatric Patients

  • 198
    Tripathi, Poonam; Agarwal, Sarita; Tewari, Satyendra; Mandal, Kausik:

    Status of Catalase, Glutathione Peroxidase, Glutathione S-Transferase, and Myeloperoxidase Gene Polymorphisms in Beta-Thalassemia Major Patients to Assess Oxidative Injury and Its Association with Enzyme Activities

    Supplementary Material (PDF)
  • 213
    Shapoo, Nidha Sadiq; Masood, Akbar; Bhat, Javid R.; Bhatia, A. S.; Shah, Idrees A.; Ganai, Bashir A.:

    CYP2D6 rs35742686 and rs3892097 Gene Polymorphisms and Childhood Acute Lymphoblastic Leukemia: Relation to Disease Susceptibility in Kashmiri Children

  • 221
    Dawman, Lesa; Tiewsoh, Karalanglin; Barman, Prabal; Pratyusha, Kambagiri; Chaakchhuak, Lalawmpuia; Sharawat, Indar Kumar:

    Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute

    • Case Report

  • 227
    Vakrilova, Liliya; Hitrova-Nikolova, Stanislava; Bradinova, Irena:

    Triploidy in a Live-Born Extremely Low Birth Weight Twin: Clinical Aspects

  • 232
    Zdanowicz, Katarzyna; Uscinowicz, Miroslawa; Rakowska, Magdalena; Wertheim-Tysarowska, Katarzyna; Rygiel, Agnieszka Magdalena; Oracz, Grzegorz; Lebensztejn, Dariusz Marek:

    Chronic pancreatitis caused by a Homozygous SPINK1 c.194 + 2T > C variant and Pancreas Divisum in a 3-year-old child—case report

  • 236
    Spehar Uroic, Anita; Milenkovic, Dragan; De Franco, Elisa; Bilic, Ernest; Rojnic Putarek, Natasa; Krnic, Nevena:

    Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation

  • 240
    Higuchi, Tsukasa; Yoshizawa, Kazuki; Hatata, Tomoko; Yoshizawa, Katsumi; Takamizawa, Shigeru; Kobayashi, Jun; Kubota, Noriko; Hidaka, Eiko:

    Novel Causative RET Mutation in a Japanese Family with Hirschsprung's Disease: Case Report and Factors Impacting Disease Severity

  • 245
    Bağış, Haydar; Öztürk, Özden; Bolu, Semih; Taşkın, Bayram:

    A Novel Mutation in NIPBL Gene with the Cornelia de Lange Syndrome and a 10q11.22-q11.23 Microdeletion in the Same Individual

  • 253
    Bradinova, Irena; Andonova, Silvia; Savov, Alexey:

    Retrospective Diagnosis of Pontocerebellar Hypoplasia Type 1B in a Family with Two Deceased Newborn Children

  • 257
    Gowda, Vykuntaraju K.; Kerur, Chetan; Vamyanmane, Dhananjaya K.; Kumar, Pragalatha; Nagarajappa, Vani H.; Shivappa, Sanjay K.:

    A Treatable Cause of Myelopathy: Biotinidase Deficiency Presenting as Acute Flaccid Paralysis