Olgac Dundar, Nihal;

Ozyilmaz, Berk;

Cavusoglu, Dilek;

Gencpinar, Pinar;

Erdogan, Kadri Murat;

Saka Guvenc, Merve:


Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability

Alazaizeh, Wafa:


A Novel De Novo Frameshift Mutation in

KAT6A

Identified by Whole Exome Sequencing

Chen, Bee Chin;

Yakob, Yusnita;

Hian, Lua Seok;

Afroze, Bushra:


Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation

Yilmaz, Hayri Levent;

Bozdogan, Sevcan;

Bisgin, Atıl;

Celik, Tugçe;

Surmelioglu, Ozgur;

Doran, Figen:


A Two-Month-Old Child with Vascular Ectasia: A Case Report Diagnosed by Molecular Karyotyping

Stoniene, Dalia;

Kucinskiene, Ruta;

Buffat, Christophe;

Asmoniene, Virginija:


Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea

Daymont, Carrie;

Ladda, Roger;

Lull, Jordan;

Ficicioglu, Can;

Cohen, Jennifer L.;

Aprile, Justen:


Failure to Thrive: An Expanded Differential Diagnosis

Damianidou, Labrini;

Papageorgiou, Theodotis;

Tragiannidis, Athanasios;

Haidopoulou, Katerina;

Giannopoulos, Andreas;

Hatzipantelis, Emmanuel:


Description of an

ELANE

Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings

Réa, Rosângela Roginski;

Romanzini, Nicole Balster;

Gomes, Marilia Brito;

Furtado-Alle, Lupe;

Souza, Ricardo L. R.:



IL18

Gene Polymorphism Influences Age of Onset of DM1 in African Ancestry Brazilians