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37 results on '"Deborah J. Shears"'

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1. Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

2. Variable skeletal phenotypes associated with biallelic variants in PRKG2

3. The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

4. Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

5. SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

6. SVRare: discovering disease-causing structural variants in the 100K Genomes Project

7. The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

8. HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

9. Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing

10. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

11. PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases

12. Eight further individuals with intellectual disability and epilepsy carrying bi-allelicCNTNAP2aberrations allow delineation of the mutational and phenotypic spectrum

13. Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

14. The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

15. 1q24 deletion syndrome. Two cases and new insights into genotype-phenotype correlations

16. 2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family

17. Children with sex chromosome trisomies: parental disclosure of genetic status

18. De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability

19. STAR syndrome: a further case and the first report of maternal mosaicism

20. NovelKDM6A(UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

21. Autism, language and communication in children with sex chromosome trisomies

22. Mandibulofacial Dysostosis with Microcephaly:Mutation and Database Update

23. Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature

24. Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

25. De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability

26. Frontometaphyseal dysplasia

27. Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness

28. A new acro-osteolysis syndrome caused by duplications including PTHLH

29. Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia

30. L�ri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: Implications for genetic counselling

31. Pseudoautosomal linkage of familial hodgkin's lymphoma: molecular analysis of a unique family with leri-weill dyschondrosteosis and hodgkins lymphoma

32. Kantaputra mesomelic dysplasia: a second reported family

33. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

34. Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation

35. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

36. Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity (Am J Med Genet 140A: 1726–1736)

37. Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

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