370 results on '"Heath, Karen E."'
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2. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
3. Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant
4. Achondroplasia: Update on diagnosis, follow-up and treatment
5. Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.
6. Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2
7. Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants
8. Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in Spain
9. Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related
10. Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant
11. Acondroplasia: actualización en diagnóstico, seguimiento y tratamiento
12. Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related.
13. In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype
14. Multiple SLC26A2 mutations occurring in a three-generational family
15. Clinical and radiological heterogeneity for the rare FGFR3 variant, p. Ser344Cys , description of a third patient
16. Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13 ‐related: Description of 11 further cases
17. New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly
18. KLF6, a Candidate Tumor Suppressor Gene Mutated in Prostate Cancer
19. 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
20. A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient
21. Additional file 7 of Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
22. Additional file 6 of Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
23. Additional file 3 of Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
24. Additional file 5 of Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
25. Additional file 1 of Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
26. Additional file 2 of Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
27. Additional file 4 of Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
28. Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient.
29. Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients
30. 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
31. Precocious puberty and anal stenosis in an African patient with Rothmund–Thomson syndrome
32. Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations
33. IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy
34. Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene
35. Genetic Basis of Proportional Short Stature
36. Molecular and Clinical Analysis of ALPL in a Cohort of Patients with Suspicion of Hypophosphatasia
37. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
38. Precocious puberty and anal stenosis in an African patient with Rothmund–Thomson syndrome.
39. Novel FGF9 variant contributes to multiple synostoses syndrome 3
40. Variable skeletal phenotypes associated with biallelic variants in PRKG2
41. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies
42. Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population
43. Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported
44. Variable skeletal phenotypes associated with biallelic variants in PRKG2.
45. Short stature and scoliosis: revealing signs of ultrarare skeletal dysplasia
46. Talla baja y escoliosis: datos reveladores de displasia esquelética ultrarrara
47. Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis
48. 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
49. Analysis of Invdupdel(8p) Rearrangement: Clinical, Cytogenetic and Molecular Characterization
50. Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements
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