A species not extinct: Publication of case reports and scientific knowledge
A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance
Acceptance of genetic testing for hereditary breast ovarian cancer among study enrollees from an African American kindred
Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic
Metabolic disorders detectable by tandem mass spectrometry and unexpected early childhood mortality: A population-based study
The perceived personal control (PPC) questionnaire as an outcome of genetic counseling: Reliability and validity of the instrument
CHARGE syndrome: Relations between behavioral characteristics and medical conditions
Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations
Atypical ZFHX1B mutation associated with a mild Mowat–Wilson syndrome phenotype
A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2
Non-lethal congenital hypotonia due to glycogen storage disease type IV
Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment
Rapp–Hodgkin ectodermal dysplasia syndrome: The clinical and molecular overlap with Hay–Wells syndrome
Phenotype resembling Donnai–Barrow syndrome in a patient with 9qter;16qter unbalanced translocation
Familial dilated cardiomyopathy hypergonadotrophic hypogonadism associated with thyroid hemiagenesis
A Japanese boy with apparent Bohring-Opitz or “C-like” syndrome
HOXA1 mutations are not a common cause of Duane anomaly
No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome
Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
Progressive osseous heteroplasia controlled by intravenous administration of pamidronate
Screening for conditions that do not meet the Wilson and Jungner criteria: The case of Duchenne muscular dystrophy
De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature
Genetics of developmental disabilities. Edited by Merlin G. Butler and F. John Meaney.
Malformations in children with cancer
Genotype–phenotype correlation of the Wilson disease ATP7B gene