Journal of Pediatric Genetics

Ausgabe 02 · Juni 2021

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Original Article
085
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

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092
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

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098
Bakutenko, Ivan Y.; 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

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105
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

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111
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 FREIER ZUGRIFF

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116
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

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Case Report
126
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

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131
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

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139
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

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Zusatzmaterial

Supplementary Material
147
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

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152
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

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156
Vyas, Varuna; K., Deepthi; Singh, Kuldeep: A Case of Neonatal Diabetes Mellitus Due to INS Gene Mutation with Maternal Mosaicism and Atypical Presentation

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159
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

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164
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

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