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Articles: Basic Science/Genetics |
Prior Articles
Homozygous variant of UGT1A1 gene mutation and severe neonatal hyperbilirubinemia
Pediatrics International, 07/28/09
Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum
Human Molecular Genetics, 07/28/09 TSC2/PKD1 Contiguous Gene Syndrome: A Report of 2 Cases With Emphasis on Dermatopathologic Findings
American Journal of Dermatopathology, 07/27/09 Familial small cell carcinoma of the ovary
Pediatric Blood & Cancer, 07/27/09 Muscular Dystrophy: Central Nervous System alpha-Dystroglycan Glycosylation Defects and Brain Malformation
Journal of Child Neurology, 07/27/09 Timing of maturation and predictors of menarche in girls enrolled in a contemporary British cohort
Paediatric and Perinatal Epidemiology, 07/24/09 Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)
Human Mutation, 07/24/09 Paternal Allele of IGF2 Gene Haplotype CTG Is Associated With Fetal and Placental Growth in Japanese
Pediatric Research, 07/23/09 Inhibition of canonical Wnt signaling promotes gliogenesis in P0-NSCs
Biochemical and Biophysical Research Communications, 07/23/09 Deafness Genes in Israel: Implications for Diagnostics in the Clinic
Pediatric Research, 07/22/09 HHEX-IDE polymorphism is associated with low birth weight in offspring with a family history of type 1 diabetes
Journal of Clinical Endocrinology and Metabolism, 07/22/09 New Inflammatory Disorder
JAMA, 07/22/09 Prolonged Neutropenia after Irinotecan-based Chemotherapy in a Child with polymorphisms of UGT1A1 and SLCO1B1
BMJ - Archives of Diseases in Childhood, 07/22/09 Environmental exposures, nitric oxide synthase genes, and exhaled nitric oxide in asthmatic children
Pediatric Pulmonology, 07/21/09 Functional polymorphisms of DEFB1 gene in type 1 diabetes Brazilian children
Autoimmunity, 07/21/09 Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol
American Journal of Medical Genetics, 07/21/09 Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review
American Journal of Medical Genetics, 07/21/09 Low-Income Parents' Views on the Redesign of Well-Child Care
Pediatrics, 07/20/09 Prevalence of Sarcomere Protein Gene Mutations in Pre-Adolescent Children with Hypertrophic Cardiomyopathy
Circulation: Cardiovascular Genetics, 07/17/09 The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy
Seizure - European Journal of Epilepsy, 07/17/09
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Indexed Journals: Pediatrics International, Journal of Pediatrics, Current Pediatrics
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