Reutter, Heiko;

Ludwig, Michael:


Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

Fernandes, Ana Paula;

Sousa, Marinez O.;

Ferreira, Cláudia N.;

Gomes, Karina B.:


Genetic polymorphisms as a risk factor for dyslipidemia in children

Castro-Sánchez, Sheila;

Álvarez-Satta, María:


Bardet-Biedl syndrome: A rare genetic disease

Fett-Conte, Agnes Cristina:


Birth defects: Risk factors and consequences

Alders, Marielle;

Dierckx, Elke;

Schil, Paul Van;

Demeulemeester, Veronique;

Mortier, Geert;

Desager, Kristine:


A

STAT3

mutation in hyper-immunoglobulin E syndrome: A case report

Simson, Gabrielle Gold-von:


Discomfort with uncertainty: Is testing for Brugada syndrome in the neonatal period warranted?

Russell, Laura;

Oskoui, Maryam:


Terminal 6p deletion syndrome mimicking CHARGE syndrome: A case report

Dekate, Parag;

Sharda, Sheetal;

Das, Ashim;

Attri, Savita:


An Indian girl with Fanconi-Bickel syndrome without

SLC2A2

gene mutation