Candidate loci for Zimmermann–Laband syndrome at 3p14.3
Hans-Rudolf Wiedemann (1915–2006)
Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: A novel syndrome
Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel-anatomical collections at the University of Halle, Germany
Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate
A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males
Confidentiality versus duty to inform—An empirical study on attitudes towards the handling of genetic information
Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1
COL2A1–related skeletal dysplasias with predominant metaphyseal involvement
A patient with duplication (7)(p22.1pter) characterized by array-CGH
Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome “tiling path” BAC array in a girl with heart defect, cleft palate, and developmental delay
Duplication/deletion mosaicism of the 7q(21.1 → 31.3) region
Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome
Sibling cases of Vici syndrome: Sleep abnormalities and complications of renal tubular acidosis
A novel patient with Cooks syndrome supports splitting from “classic” brachydactyly type B
Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: A complication of hyperemesis gravidarum induced vitamin K deficiency?
A family-based association study in Central Europeans: No evidence for the cystathionine beta-synthase c.844ins68 gene variant as a risk factor for non-syndromic cleft lip and palate
Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family
A new chromosome anomaly in a patient with apparent C (trigonocephaly) syndrome
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome