60 results on '"Butler, Merlin G."'
Search Results
2. Eye abnormalities in Fryns syndrome
3. Coenzyme Q10 levels in Prader-Willi syndrome: Comparison with obese and non-obese subjects
4. 45,X/46,XY mosaicism and fragile X syndrome
5. Oculoauriculofrontonasal syndrome (OAFNS) in a nine-month-old male
6. Decreased bone mineral density in Prader-Willi syndrome: Comparison with obese subjects
7. Metacarpophalangeal pattern profile analysis in Noonan syndrome
8. SPONASTRIME dysplasia: Report of an 11-year-old boy and review of the literature
9. Plasma cholecystokinin levels in Prader-Willi syndrome and obese subjects
10. Screen for MAOA mutations in target human groups
11. Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects
12. Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q
13. Comparison of leptin protein levels in Prader-Willi syndrome and control individuals
14. Beta3-adrenergic receptor gene studies in patients with Prader-Willi syndrome
15. Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15—A coincidence?
16. Hypopigmentation in the Prader-Willi syndrome correlates withP gene deletion but not with haplotype of the hemizygousP allele
17. Trisomy 17 detected in amniotic fluid cells but not in newborn infant
18. A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13
19. Distinct 15q genotypes in Russell‐Silver and ring 15 syndromes
20. Molecular diagnosis of Prader-Willi syndrome: Comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns
21. Photoanthropometric study of craniofacial traits of individuals with Prader-Willi syndrome
22. Pallister-Killian syndrome detected by fluorescence in situ hybridization
23. Identification of a ring chromosome as a ring 8 using fluorescent in situ hybridization (FISH) in a child with multiple congenital anomalies
24. High resolution chromosome analysis and fluorescence in situ hybridization in patients referred for Prader-Willi or Angelman syndrome
25. Trisomy 18 mosaicism in a 24-year-old white woman with normal intelligence and skeletal abnormalities
26. Molecular genetic screening in cytogenetically normal mentally retarded males with manifestations of fragile X syndrome
27. Are specific short arm variants or heteromorphisms over-represented in the chromosome 15 deletion in Angelman or Prader-Willi syndrome patients?
28. Metacarpophalangeal pattern profile analysis in Brachmann-de Lange syndrome
29. Metacarpophalangeal pattern profile analysis in Williams syndrome
30. Survey of mentally retarded males for cutis verticis gyrata and chromosomal fragile sites
31. Anthropometric comparison of mentally retarded males with and without the fragile X syndrome
32. An infant with deletion of the distal long arm of chromosome 15 (q26.1→qter) and loss of insulin‐like growth factor 1 receptor gene
33. Chromosome lesions which could be interpreted as “fragile sites” on the distal end of Xq
34. Prader-Willi syndrome: Current understanding of cause and diagnosis
35. Metacarpophalangeal pattern profile analysis in Sotos syndrome: An update
36. Do some patients with seckel syndrome have hematological problems and/or chromosome breakage?
37. An anthropometric study of 38 individuals with Prader‐Labhart‐Willi syndrome
38. Do some patients with fragile X syndrome have precocious puberty?
39. Steroid metabolic disturbances in Prader-Willi syndrome
40. Metacarpophalangeal pattern profile analysis in diastrophic dysplasia
41. Metacarpophalangeal pattern profile analysis in Robinow syndrome
42. Two patients with ring chromosome 15 syndrome
43. A 26-month-old child with Marden-Walker syndrome and pyloric stenosis
44. Analysis of chromosome breakage in the Prader-Labhart-Willi syndrome
45. The use of early simultaneous percutaneous umbilical blood sampling (PUBS) and amniocentesis for prenatal fragile X chromosome diagnosis
46. Prune belly syndrome in an anencephalic male
47. Metaphase chromosome folds and X-inactivation
48. Preliminary communication: Photoanthropometric analysis of individuals with the fragile X syndrome
49. Metacarpophalangeal pattern profile analysis in sotos syndrome: A follow-up report on 34 subjects
50. Plasma immunoreactive β-melanocyte stimulating hormone (lipotro-pin) levels in individuals with prader-labhart-willi syndrome
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