Disease: Cerebro-costo-mandibular syndrome
- A case of severe type of cerebro-costo-mandibular syndrome
- A case of the cerebro-costo-mandibular syndrome
- A Newborn with Extremely Rare Cerebro-Costo-Mandibular Syndrome; A Case Report Study
- A review of craniofacial disorders caused by spliceosomal defects
- Anna's compassion brought us some much-needed normality
- Autosomal dominant cerebro-costo-mandibular syndrome: ultrasonographic and clinical findings
- Bone scintigraphy in a patient with cerebro-costo-mandibular syndrome
- Cerebral cavernous malformation: Management, outcomes, and surveillance strategies - A single centre retrospective cohort study
- Cerebro-costo-mandibular syndrome
- Cerebro-costo-mandibular syndrome
- Cerebro-costo-mandibular syndrome
- Cerebro-costo-mandibular syndrome
- Cerebro-costo-mandibular syndrome
- Cerebro-costo-mandibular syndrome
- Cerebro-costo-mandibular syndrome
- Cerebro-costo-mandibular syndrome
- Cerebro-costo-mandibular syndrome (author's transl)
- Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission
- Cerebro-costo-mandibular syndrome presenting as Pierre Robin sequence
- Cerebro-costo-mandibular syndrome with autosomal dominant inheritance
- Cerebro-costo-mandibular syndrome with consanguinity
- Cerebro-costo-mandibular syndrome with stippled epiphysis and cystic fibrosis
- Cerebro-costo-mandibular syndrome without cerebral involvement in a 4-year-old boy
- Cerebro-costo-mandibular syndrome: a case report
- Cerebro-costo-mandibular syndrome: a case with cardiac anomaly
- Cerebro-costo-mandibular syndrome: a familial case consistent with autosomal recessive inheritance
- Cerebro-costo-mandibular syndrome: a follow-up study with 6 patients
- Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings
- Cerebro-costo-mandibular syndrome: early sonographic prenatal diagnosis
- Cerebro-costo-mandibular syndrome: long term follow-up of a patient and review of the literature
- Cerebro-costo-mandibular syndrome: Pierre Robin sequence with rib dysplasia
- Cerebro-costo-mandibular syndrome: prognosis and proposal for classification
- Cerebro-costo-mandibular syndrome: Report of two cases
- Cerebro-costo-mandibular syndrome. A case report
- Cerebro-costo-mandibular syndrome. A case report and review of the literature
- Cerebro-costo-mandibular syndrome. A case-report
- Cerebro-costo-mandibular syndrome. A new familial developmental disorder
- Cerebro-costo-mandibular syndrome. Three new cases (author's transl)
- Cerebrocostomandibular syndrome
- Cerebrocostomandibular syndrome in four sibs, two pairs of twins
- Cerebrocostomandibular syndrome. Case report and literature review
- Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1
- Complete absence of rib ossification, micrognathia and ear anomalies: extreme expression of cerebro-costo-mandibular syndrome?
- Consideration of the thoracic phenotype of cerebro-costo-mandibular syndrome
- Defects of the spliceosomal gene SNRPB affect osteo- and chondro-differentiation
- Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome
- Ex utero intrapartum treatment for an infant with cerebro-costo-mandibular syndrome
- Exclusion of MYF5, GSC, RUNX2, and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome
- Familial cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and review
- Hypoplastic left heart in cerebrocostomandibular syndrome
- Intraoperative Three-dimensional Virtual Reality and Computed Tomographic Guidance in Temporomandibular Joint Arthroplasty of Syndromic Craniofacial Dysostoses
- Local modulation of the Wnt/beta-catenin and bone morphogenic protein (BMP) pathways recapitulates rib defects analogous to cerebro-costo-mandibular syndrome
- Local modulation of the Wnt/β-catenin and bone morphogenic protein (BMP) pathways recapitulates rib defects analogous to cerebro-costo-mandibular syndrome
- Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome?
- Maxillo-mandibular development in cerebrocostomandibular syndrome
- Multi-detector thoracic CT findings in cerebro-costo-mandibular syndrome: rib gaps and failure of costo-vertebral separation
- Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome
- Mutations within the spliceosomal gene SNRPB affect its auto-regulation and are causative for classic cerebro-costo-mandibular syndrome
- Non-ubiquitous expression of core spliceosomal protein SmB/B' in chick and mouse embryos
- Ocular Features of Cerebro-Costo-Mandibular Syndrome
- Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features
- Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
- Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
- Preautopsy imaging in cerebro-costo-mandibular syndrome
- Prenatal diagnosis of a familial case of Cerebro-costo-mandibular syndrome
- Prenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome: case report and review of the literature
- Progressive congenital kyphosis: report of five cases and review of the literature
- Rib gap defects with micrognathia. The cerebro-costo-mandibular syndrome--a Pierre Robin-like syndrome with rib dysplasia
- Severe micrognathia with rib dysplasia: cerebro-costo-mandibular syndrome
- Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: cerebro-costo-mandibular syndrome or a new syndrome?
- Snrpb is required in murine neural crest cells for proper splicing and craniofacial morphogenesis
- Special imaging casebook. Cerebrocostomandibular syndrome with hypoxic myocardiopathy and encephalopathy
- Spine deformities in rare congenital syndromes: clinical issues
- Successful weaning of a laryngeal mask airway after a tongue-lip adhesion operation in a case with cerebro-costo-mandibular syndrome
- Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others
- Syndromes, disorders and maternal risk factors associated with neural tube defects (V)
- The cerebro-costo-mandibular syndrome: 9-year follow-up of a case
- The cerebro-costo-mandibular syndrome: seven patients and review of the literature
- The cerebro-costo-mandibular syndrome: third report of familial occurrence
- The cerebrocostomandibular syndrome
- The cerebrocostomandibular syndrome
- The cerebrocostomandibular syndrome
- The Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development
- The course of the cerebrocostomandibular syndrome
- The skeletal defects of the cerebro-costo-mandibular syndrome
- The skeletal defects of the cerebro-costo-mandibular syndrome
- The unfolded protein response regulates ER exit sites via SNRPB-dependent RNA splicing and contributes to bone development
- Three-dimensional ultrasonographic presentation of micrognathia
- Total absence of ribs in a newborn with cerebrocostomandibular syndrome
- You make the diagnosis. Cerebro-costo-mandibular syndrome (Smith-Theiler-Schachenmann syndrome)