Topic: Child, Preschool
Journal: Journal of Medical Genetics
Documents
A list of abstracts that contain a topic of "Child, Preschool" and a journal name of "Journal of Medical Genetics".
Exonic Stk11 Deletions Are Not a Rare Cause of Peutz-jeghers Syndrome.
PMID: 16582077
Cdkl5 Mutations Cause Infantile Spasms, Early Onset Seizures, and Severe Mental Retardation in Female Patients.
PMID: 16611748
A Novel Mutation in the Mitochondrial Trna(Ser(Agy)) Gene Associated with Mitochondrial Myopathy, Encephalopathy, and Complex I Deficiency.
PMID: 16950817
Irak4 and Nemo Mutations in Otherwise Healthy Children with Recurrent Invasive Pneumococcal Disease.
PMID: 16950813
Mutations in Hepatocyte Nuclear Factor-1beta and Their Related Phenotypes.
PMID: 15930087
Guidelines for the Diagnosis and Management of Individuals with Neurofibromatosis 1.
PMID: 17105749
Gross Rearrangements of the Mecp2 Gene Are Found in Both Classical and Atypical Rett Syndrome Patients.
PMID: 16183801