logo
What to call a syndrome
On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence
Laminectomies and achondroplasia: Does body mass index influence surgical outcomes?
Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33)
Genetic counseling utilization by families with offspring affected by birth defects, Hawaii, 1986–2003
Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster
Differential effects of trisomy on brain shape and volume in related aneuploid mouse models
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of genitopatellar syndrome
Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome
Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome
Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay
De novo trisomy 20p of paternal origin
Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis
Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype–phenotype correlation?
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: Clinical, pathological, and molecular findings
An 11q terminal deletion and tetralogy of Fallot
Familial multiple pterygium syndrome (MPS) is not associated with CHRNG gene mutation