42 results on '"Duker, Angela L."'
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2. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities
3. Identification of potential non-invasive biomarkers in diastrophic dysplasia
4. Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
5. Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
6. Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study
7. Collagen X Marker Levels are Decreased in Individuals with Achondroplasia
8. Defining the clinical phenotype of Saul–Wilson syndrome
9. Prevalence of mental health conditions and pain in adults with skeletal dysplasia
10. Novel XRCC4 Mutations in an Infant With Microcephalic Primordial Dwarfism, Dilated Cardiomyopathy, Subclinical Hypothyroidism, and Early Death: Expanding the Phenotype Of XRCC4 Mutations
11. Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease
12. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
13. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
14. RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation
15. Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia
16. Quantification of Finger Laxity in Skeletal Dysplasia
17. Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata
18. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
19. Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients
20. Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II
21. Growth charts for individuals with rhizomelic chondrodysplasia punctata
22. Metatropic dysplasia is associated with increased fracture risk
23. C-Type Natriuretic Peptide Plasma Levels Are Elevated in Subjects With Achondroplasia, Hypochondroplasia, and Thanatophoric Dysplasia
24. Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
25. Growth in Individuals With Majewski Osteodysplastic Primordial Dwarfism Type II Caused by Pericentrin Mutations
26. Growth in individuals with Saul–Wilson syndrome
27. Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor
28. ʼThe cost and yield of evaluations for developmental delay/mental retardationʼ
29. Rhizomelic chondrodysplasia punctata morbidity and mortality, an update
30. Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata
31. Biallelic variants in DNA2 cause microcephalic primordial dwarfism
32. Dominant missense variants in SREBF2are associated with complex dermatological, neurological, and skeletal abnormalities
33. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
34. Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.
35. Growth charts for individuals with rhizomelic chondrodysplasia punctata
36. Congenital heart defects common in rhizomelic chondrodysplasia punctata
37. The expanding phenotype of <italic>RNU4ATAC</italic> pathogenic variants to Lowry Wood syndrome.
38. Hip Pathology in Majewski Osteodysplastic Primordial Dwarfism Type II
39. Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
40. Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome
41. ‘The cost and yield of evaluations for developmental delay/mental retardation’
42. Congenital Heart Defects Common in Rhizomelic Chondrodysplasia Punctata.
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