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Frontonasal malformation and cloacal exstrophy: A previously unreported association
Documents Frontonasal malformation and cloacal exstrophy: A previously unreported association
Diaphragmatic hernia-exomphalos-hypertelorism syndrome: A new case and further evidence of autosomal recessive inheritance
Documents Diaphragmatic hernia-exomphalos-hypertelorism syndrome: A new case and further evidence of autosomal recessive inheritance
Circumferential ringed creases (“Michelin tire babies”) with specific histologic findings and/or karyotype abnormalities: Clues to molecular pathogenesis?
Documents Circumferential ringed creases (“Michelin tire babies”) with specific histologic findings and/or karyotype abnormalities: Clues to molecular pathogenesis?
Nasal dimple as part of the 22q11.2 deletion syndrome
Documents Nasal dimple as part of the 22q11.2 deletion syndrome
Lateral meningocele syndrome: Three new patients and review of the literature
Documents Lateral meningocele syndrome: Three new patients and review of the literature
Arthritis associated with deletion of 22q11.2: More common than previously suspected
Documents Arthritis associated with deletion of 22q11.2: More common than previously suspected
Skeletal anomalies and deformities in patients with deletions of 22q11
Documents Skeletal anomalies and deformities in patients with deletions of 22q11
Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: Expanding the phenotype of Cumming syndrome
Documents Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: Expanding the phenotype of Cumming syndrome
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III
Documents Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome
Documents TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome
Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother
Documents Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother
Deletion 4q34.2
Documents Deletion 4q34.2
Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: Effects of imprinting
Documents Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: Effects of imprinting
Design Metrics as an Aid to Software Maintenance: An Empirical Study
Documents Design Metrics as an Aid to Software Maintenance: An Empirical Study
Magnetic resonance imaging in adults with epilepsy: A pictorial essay
Documents Magnetic resonance imaging in adults with epilepsy: A pictorial essay
Variability in the Michelin tire syndrome
Documents Variability in the Michelin tire syndrome
Congenital heart defects in oculodentodigital dysplasia: Report of two cases
Documents Congenital heart defects in oculodentodigital dysplasia: Report of two cases
Long-term Follow-up of Ocular Findings in Children With Stickler's Syndrome
Documents Long-term Follow-up of Ocular Findings in Children With Stickler's Syndrome
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome
Documents Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome
Potential antiinflammatory compounds. 1. Antiinflammatory phenylpiperidine derivatives
Documents Potential antiinflammatory compounds. 1. Antiinflammatory phenylpiperidine derivatives