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Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome?
Parenting children with Proteus syndrome: Experiences with, and adaptation to, courtesy stigma
Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish–Mennonites
Diaphragmatic defects and limb deficiencies—Taking sides
Growth hormone analysis and treatment in Ellis–van Creveld syndrome
Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review
Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith–Lemli–Opitz syndrome (SLOS)
Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: Implications for critical region designation
Distal 3p deletion syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review
Prevalence of encephalocele in Texas, 1999–2002
Severe fatal course of axial mesodermal dysplasia spectrum associated with complex cardiac defect in an infant of a mother with insulin dependent diabetes
A microduplication of CBP in a patient with mental retardation and a congenital heart defect
Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14
Zellweger syndrome resulting from maternal isodisomy of chromosome 1
A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene
Exclusion of genes from the EYA-DACH-SIX-PAX pathway as candidates for Branchio–Oculo–Facial syndrome (BOFS)
Prevalence of Angelman syndrome amongst referrals with epilepsy and developmental delay
18p trisomy: A case of direct 18p duplication characterized by molecular cytogenetic analysis
Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene
Prenatal diagnosis of a small chromosome 2-derived supernumerary marker, and review of the reported cases
Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: Two patients and review of the literature
Diagnostic imaging: Obstetrics. Written by: Woodward PJ, Kennedy A, Sohaey R, Byrne JLB, Oh KY, Puchalski MD. Published by: Amirsys/Elsevier, Salt Lake City, UT. ISBN: 1-4160-2335-6.
Ehlers–Danlos syndrome due to tenascin-X deficiency: Muscle weakness and contractures support overlap with collagen VI myopathies