Dwarfs in ancient Egypt
Andersen-Tawil syndrome: Prospective cohort analysis and expansion of the phenotype
Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy
18q deletions: Clinical, molecular, and brain MRI findings of 14 individuals
Schimke immuno-osseous dysplasia: A cell autonomous disorder?
A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred
Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome
Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia
Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23
Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion
Shprintzen–Goldberg omphalocele syndrome: A new patient with an expanded phenotype
Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: Further evidence for phenotypic heterogeneity
Karyotype–phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit
A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr–Tranebjaerg) syndrome
Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF
A subterminal deletion of the long arm of chromosome 10: A clinical report and review
The use of inappropriate, demeaning, and pejorative terminology to describe syndromes
Response to Feingold's: The use of inappropriate, demeaning, and perjorative terminology to describe syndromes