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1. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

2. A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes

3. Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients

4. AHDC1 missense mutations in Xia-Gibbs syndrome

6. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

7. Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders

8. A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.

9. Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders

10. SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum

11. Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders

12. Expanding the phenotypic spectrum of Chromosome16p13.11 microduplication: A multicentric analysis of 206 patients

15. 1165 The wales infants’ and children’s genome service’ (WINGS): diagnostic rapid whole genome sequencing for unwell children with a suspected rare genetic diagnosis

16. Heterozygous variants inZBTB7Acause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

17. Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

18. The contribution of X-linked coding variation to severe developmental disorders

23. Genotype–phenotype correlation at codon 1740 ofSETD2

24. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

25. Stereospecific cyclic ether formation with phenylthio migration

26. ERBB4exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy

28. Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.

29. Biallelic CRELD1variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

33. Social Cognition in Williams Syndrome: Genotype/Phenotype Insights from Partial Deletion Patients

36. α-Amino Acid Phenolic Ester Derivatives: Novel Water-Soluble General Anesthetic Agents Which Allosterically Modulate GABAA Receptors

37. Conformationally Constrained Anesthetic Steroids That Modulate GABAA Receptors

48. Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity

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