403 results on '"Heath, Karen E."'
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2. ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions
3. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
4. Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant
5. Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2
6. Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants
7. Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma
8. Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in Spain
9. ERN BOND:The key European network leveraging diagnosis, research, and treatment for rare bone conditions
10. Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.
11. Achondroplasia: Update on diagnosis, follow-up and treatment
12. Acondroplasia: actualización en diagnóstico, seguimiento y tratamiento
13. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
14. In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype
15. Variantes que mantienen el marco de lectura en el dominio Rod 1 proximal del gen FLNA se asocian con un predominio del fenotipo valvular
16. Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
17. Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature
18. Multiple SLC26A2 mutations occurring in a three-generational family
19. Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related
20. Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant
21. KLF6, a Candidate Tumor Suppressor Gene Mutated in Prostate Cancer
22. Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related.
23. A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient
24. Clinical and radiological heterogeneity for the rare FGFR3 variant, p. Ser344Cys , description of a third patient
25. Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13 ‐related: Description of 11 further cases
26. New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly
27. Additional file 6 of Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
28. Additional file 3 of Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
29. Additional file 5 of Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
30. Additional file 1 of Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
31. Additional file 2 of Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
32. Additional file 4 of Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
33. Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome
34. Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region
35. Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene
36. Genetic Basis of Proportional Short Stature
37. Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients
38. Precocious puberty and anal stenosis in an African patient with Rothmund–Thomson syndrome
39. IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy
40. Molecular and Clinical Analysis of ALPL in a Cohort of Patients with Suspicion of Hypophosphatasia
41. Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient.
42. Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations
43. Variable skeletal phenotypes associated with biallelic variants in PRKG2
44. Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients
45. Novel FGF9 variant contributes to multiple synostoses syndrome 3
46. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
47. Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported
48. Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis
49. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium
50. Analysis of Invdupdel(8p) Rearrangement: Clinical, Cytogenetic and Molecular Characterization
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