Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function
“We Kept Our Promises”: An oral history of Harry Shwachman, M.D.
Genetics, altruism, and the National Children's Study
Empirical data about women's attitudes towards a hypothetical pediatric biobank
Empirical data about women's attitudes toward a biobank focused on pregnancy outcomes
Hematological abnormalities during the first week of life among neonates with trisomy 18 and trisomy 13: Data from a multi-hospital healthcare system
Pregnancy and birth history of newborns with trisomy 18 or 13: A pilot study
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman
Expanding the phenotype of mosaic trisomy 20
Chromosome deletions in 13q33–34: Report of four patients and review of the literature
DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome
Electrocardiography in Noonan syndrome PTPN11 gene mutation—phenotype characterization
Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance
Progressive cerebral vascular degeneration with mitochondrial encephalopathy
Characterization of a cryptic 3.3 Mb deletion in a patient with a “balanced t(15;22) translocation” using high density oligo array CGH and gene expression arrays
Fragile X syndrome with anxiety disorder and exceptional verbal intelligence
Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel ( SCN4A ) gene
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome
Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia
Rapidly progressive scoliosis after successful treatment for osteopenia in Costello syndrome
Hormonal and neuropsychological evaluation of two 47,XYY patients with pituitary abnormalities
Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome
Re: Miles & Takahashi paper on RhIg and autism
Reply to Bernard et al. “Re: Miles and Takahashi Paper on RhIg and Autism”