Discover open access scientific publications

Search, annotate, share and cite publications

Publications by N. G. G. M. Abeling

A Korean Case of Β-Ureidopropionase Deficiency Presenting With Intractable Seizure, Global Developmental Delay, and Microcephaly

Internal Medicine

Molecular Biology

English

Related publications

Biotinidase Deficiency Screening in Patients With Global Developmental Delay at a Tertiary Children's Hospital

Pediatric Research

English

Beta-Ureidopropionase Deficiency

English

Nuclear PTEN Deficiency Causes Microcephaly With Decreased Neuronal Soma Size and Increased Seizure Susceptibility

Journal of Biological Chemistry

Molecular Biology

English

MRI Diagnosis in Children With Global Developmental Delay

Journal of Medical Science And clinical Research

English

Partial Monosomy14q Involving FOXG1 and NOVA1 in an Infant With Microcephaly, Seizures and Severe Developmental Delay

Molecular Cytogenetics

Molecular Medicine

Molecular Biology

English

Microdeletion of 18q21.31 Encompassing the Mc4r Gene Presenting With Obesity and Developmental Delay

Canadian Journal of Diabetes

Internal Medicine

English

Nested Case-Control Study of Children Presenting With First Afebrile Seizure at KKH: Seizure Recurrence and Comorbidities

Proceedings of Singapore Healthcare

English

Language Developmental Delay. Case Study

Revista Română de Terapia Tulburărilor de Limbaj şi Comunicare

English

Vitamin B12 Deficiency With Presenting Nutritional Difficulty: A Case Report

Journal of Dr. Behcet Uz Children's Hospital

English