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JOURNAL OF PEDIATRIC GENETICS
Official Journal of the World Pediatric Society, Turkiye
LAST ISSUE
Original Article
Gowda, Vykuntaraju K.; 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
Floriani, Maiara A.; Glaeser, Andressa B.; Dorfman, Luiza E.; Agnes, Grasiela; Rosa, Rafael F. M.; Zen, Paulo R. G.:
GATA4 Deletions Associated with Congenital Heart Diseases in South Brazil
Bakutenko, Ivan Y.; Hileuskaya, Irena D.; Nikitchenko, Natalia V.; Sechko, Elena V.; Tchitchko, Alexej M.; Batyan, Galina M.; Sukalo, Alexander V.; Ryabokon, Nadezhda I.:
APolymorphism of Proteasomal Genes Can Be a Risk Factor for Systemic Autoimmune Diseases in Children
Holdar, Sinan; 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
Bhardwaj, Naveen Kumar; 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
Dahpy, Marwa A.; 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
Case Report
Kops, Samantha A.; Kylat, Ranjit I.; Bhatia, Shanti; Seckeler, Michael D.; Barber, Brent J.; Bader, Mohammad Y.:
Genetic Characterization of a Model Ciliopathy: Bardet–Biedl Syndrome
Afifi, Hanan H.; 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
García-Aznar, José María; 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
Gogou, Maria; 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
Kiss, Edgar E.; Chandran, Neethu; Alex, Gijo; Olomu, Patrick:
Anesthetic Challenges of an Adolescent Patient with Epidermolysis Bullosa and Gitelman's Syndrome Undergoing Posterior Spinal Fusion Surgery
Vyas, Varuna; K., Deepthi; Singh, Kuldeep:
A Case of Neonatal Diabetes Mellitus Due to INS Gene Mutation with Maternal Mosaicism and Atypical Presentation
Kalmár, Tibor; 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
Marcilla Vázquez, Carlos; 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