Vegda, Hemadri;

Nagarajan, Balamurugan B.;

Shivappa, Sanjay K.:


Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy

Glaeser, Andressa B.;

Dorfman, Luiza E.;

Agnes, Grasiela;

Rosa, Rafael F. M.;

Zen, Paulo R. G.:



GATA

4 Deletions Associated with Congenital Heart Diseases in South Brazil

Hileuskaya, Irena D.;

Nikitchenko, Natalia V.;

Sechko, Elena V.;

Tchitchko, Alexej M.;

Batyan, Galina M.;

Sukalo, Alexander V.;

Ryabokon, Nadezhda I.:


Polymorphism of Proteasomal Genes Can Be a Risk Factor for Systemic Autoimmune Diseases in Children

Rahbeeni, Zuhair;

Ramzan, Khushnooda;

Imtiaz, Faiqa:


Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center

Gowda, Vykuntaraju K.;

Sardesai, Ashwin Vivek:


Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature

Saleem, Tahia H.;

El-Asheer, Osama M.;

ELrasoul, Ahmed Abd;

Abo Elgeit, Amir M.:


Clinical, Biochemical, Molecular, and Therapeutic Analysis of Maple Syrup Urine Disease in Upper Egypt

Kylat, Ranjit I.;

Bhatia, Shanti;

Seckeler, Michael D.;

Barber, Brent J.;

Bader, Mohammad Y.:


Genetic Characterization of a Model Ciliopathy: Bardet–Biedl Syndrome

El-Kamah, Ghada Y.;

Kamel, Alaa K.;

Abd Allah, Sally G.;

Hammad, Sayda;

Sayed-Ahmed, Mohammed M.;

Hussein, Shymaa H.;

Mohamed, Amal M.:


Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant

Ramírez, Noelia;

De Uña, David;

Santiago, Elisa;

Monserrat, Lorenzo:


Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in

AMER1

Pavlou, Evangelos;

Kimiskidis, Vasilios;

Kouskouras, Konstantinos;

Pavlidou, Efterpi;

Papadopoulos, Theophanis;

Haidopoulou, Katerina;

Fidani, Liana:


Novel Mutations Involved in Charcot-Marie-Tooth 4C and Intrafamilial Variability: Let’s Not Miss the Forest for the Trees

Chandran, Neethu;

Alex, Gijo;

Olomu, Patrick:


Anesthetic Challenges of an Adolescent Patient with Epidermolysis Bullosa and Gitelman’s Syndrome Undergoing Posterior Spinal Fusion Surgery

K., Deepthi;

Singh, Kuldeep:


A Case of Neonatal Diabetes Mellitus Due to

INS

Gene Mutation with Maternal Mosaicism and Atypical Presentation

Szakszon, Katalin;

Maróti, Zoltán;

Zimmermann, Alíz;

Máté, Adrienn;

Zombor, Melinda;

Bereczki, Csaba;

Sztriha, László:


A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

Carrascosa Romero, María del Carmen;

Martínez Gutiérrez, Andrés;

Baquero Cano, María;

Alfaro Ponce, Blanca;

Dabad Moreno, María Jesús:


A Novel c.968C > T homozygous Mutation in the Polynucleotide Kinase 3′ − Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay