2022_03-_173-260.html





Journal of Pediatric Genetics


Journal of Pediatric Genetics


Issue 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




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





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




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





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