Pages that link to "Q34323553"

The following pages link to Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes (Q34323553):

Displaying 28 items.

• Genetic Syndromes Associated with Craniosynostosis (Q26745874) (← links)
• New insights into the generation and role of de novo mutations in health and disease (Q28073446) (← links)
• Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1. (Q33894385) (← links)
• Genetic causes of congenital diaphragmatic hernia (Q34657017) (← links)
• Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes (Q35095534) (← links)
• Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants (Q35722092) (← links)
• Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation (Q35827380) (← links)
• Rapid reverse genetic screening using CRISPR in zebrafish (Q36341911) (← links)
• A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype (Q36887572) (← links)
• X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia (Q37371318) (← links)
• Unidirectional Eph/ephrin signaling creates a cortical actomyosin differential to drive cell segregation (Q37375188) (← links)
• Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology. (Q37460161) (← links)
• EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells. (Q37707496) (← links)
• Two common human CLDN5 alleles encode different open reading frames but produce one protein isoform (Q47738000) (← links)
• Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1. (Q51001938) (← links)
• Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox (Q51044868) (← links)
• Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome (Q56261672) (← links)
• Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation (Q56266813) (← links)
• The significance of trisomy 7 mosaicism in noninvasive prenatal screening (Q64055250) (← links)
• Aberrant cell segregation in the craniofacial primordium and the emergence of facial dysmorphology in craniofrontonasal syndrome (Q89857173) (← links)
• Cellular organization and boundary formation in craniofacial development (Q90480746) (← links)
• X-linked diseases: susceptible females (Q91874553) (← links)
• Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development (Q92577818) (← links)
• Genetic Causes of Craniosynostosis: An Update (Q93043673) (← links)
• Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of EFNB1 (Q93043695) (← links)
• An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis (Q93043734) (← links)
• Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis (Q104111341) (← links)
• Making and Shaping Endochondral and Intramembranous Bones (Q104466224) (← links)