Journal of Pediatric Genetics

Ausgabe 01 · März 2019

eFirst
Ausgabe
Reviewers' List
i
Contributing Reviewers in 2018

Volltext

HTML

PDF (37 kb)
Original Article
001
Arican, Pinar; 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

Volltext

HTML

PDF (125 kb)
010
Alkhateeb, Asem; Alazaizeh, Wafa: A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing

Volltext

HTML

PDF (277 kb)
Case Report
015
Durrani, Sana; Chen, Bee Chin; Yakob, Yusnita; Hian, Lua Seok; Afroze, Bushra: Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation

Volltext

HTML

PDF (430 kb)
020
Kendir, Ozlem Tolu; 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 FREIER ZUGRIFF

Volltext

HTML

PDF (173 kb)
024
Liaugaudiene, Olga; Stoniene, Dalia; Kucinskiene, Ruta; Buffat, Christophe; Asmoniene, Virginija: Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea

Volltext

HTML

PDF (101 kb)
027
Lazzara, Alexandra; Daymont, Carrie; Ladda, Roger; Lull, Jordan; Ficicioglu, Can; Cohen, Jennifer L.; Aprile, Justen: Failure to Thrive: An Expanded Differential Diagnosis

Volltext

HTML

PDF (226 kb)
033
Gogou, Maria; 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

Volltext

HTML

PDF (567 kb)
Rapid Communication
038
Boëchat-Fernandes, Alejandro; 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

Volltext

HTML

PDF (81 kb)
Meistgelesen
Archiv

Zeitschrift

Autor*innen

Abonnement