Encomium to accompany “Living History—Biography: From Boston to Halifax via Ann Arbor, Minneapolis, and Seattle”, …of faces and frogs—and vasculature—of overgrowth and bones
Living history-biography: From Boston to Halifax via Ann Arbor, Minneapolis, and Seattle 1
Setting a public health research agenda for Down syndrome: Summary of a meeting sponsored by the Centers for Disease Control and Prevention and the National Down Syndrome Society
Behavior of 10 patients with FG syndrome (Opitz–Kaveggia syndrome) and the p.R961W mutation in the MED12 gene
Cognition and behavior in pre-pubertal children with Prader–Willi syndrome and associations with sleep-related breathing disorders
Community consultation and communication for a population-based DNA biobank: The Marshfield clinic personalized medicine research project
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24
Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases
Multiple congenital skull fractures as a presentation of Ehlers–Danlos syndrome type VIIC
Johanson–Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy
Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature
Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys–Dietz syndrome
Distal 22q11.2 microduplication encompassing the BCR gene
Familial oculoauriculovertebral sequence with lymphoma in one sibling
A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family
Hyperamylasemia/hyperlipasemia in a child with propionic acidemia
Incontinentia pigmenti in a female conceived by in vitro fertilization
Recurrence of Mowat–Wilson syndrome in siblings with a novel mutation in the ZEB2 gene
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency
Skeletal dysplasia in ancient Egypt