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JOURNAL OF PEDIATRIC GENETICS

Official Journal of the World Pediatric Society, Turkiye


LAST ISSUE

Volume 11, Number 3, Year 2022


Original Article
Abdellatif, May A.K.;Eyada, Eman;Rabie, Walaa;Abdelaziz, Azza;Shahin, Walaa:
Genetic and Biochemical Predictors of Neonatal Bronchopulmonary Dysplasia


Elangovan, Bharathi;N.T, Rajesh;Subrahmanian, Meenu:
Apolipoprotein-E Gene Polymorphism and Lipid Composition among IUGR and AGA Neonates


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


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


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


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


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
Vakrilova, Liliya;Hitrova-Nikolova, Stanislava;Bradinova, Irena:
Triploidy in a Live-Born Extremely Low Birth Weight Twin: Clinical Aspects


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


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


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


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


Bradinova, Irena;Andonova, Silvia;Savov, Alexey:
Retrospective Diagnosis of Pontocerebellar Hypoplasia Type 1B in a Family with Two Deceased Newborn Children


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