146 results on '"Magenis, R. Ellen"'
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2. Technical Variables and the Use of Heteromorphisms in the Study of Human Chromosomes
3. Cytogenetic Comparison between Prader-Willi and Angelman Syndromes
4. Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems
5. Cytogenetic analysis of a primary bone angiosarcoma
6. Gene Dosage: Evidence for Assignment of Erythrocyte Acid Phosphatase Locus to Chromosome 2
7. Chondromyxoid fibroma of the nasal cavity with an interstitial insertion between chromosomes 6 and 19
8. Duplication of thePMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy
9. Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy
10. Intrachromosomal location of the telomeric repeat (TTAGGG)n
11. Heritable Fragile Site on Chromosome 16: Probable Localization of Haptoglobin Locus in Man
12. Hematopathologic and cytogenetic findings in imatinib mesylate–treated chronic myelogenous leukemia patients: 14 months' experience
13. Trisomy 11: an association with stem/progenitor cell immunophenotype
14. Repression of Fanconi Anemia Gene (FACC) Expression Inhibits Growth Of Hematopoietic Progenitor Cells
15. Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe
16. Colored reverse-banding of human chromosomes with acridine orange following alkaline/formalin treatment: Densitometric validation and applications
17. 9p trisomy identified by Giemsa-11
18. Distal 19q duplication
19. Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1 → q22.3 in a patient with tyrosinemia type II
20. Parental origin of a ring 13 chromosome in a female with multiple anomalies
21. Localization of the β-globin gene to 11p15 by in situ hybridization: Utilization of chromosome 11 rearrangements
22. HLA and autism
23. The Human Cell Nucleus: Quinacrine and Other Differential Stains in the Study of Chromatin and Chromosomes
24. Cytogenetic analysis of a hemosiderotic fibrolipomatous tumor
25. Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion
26. Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia
27. RAI1 point mutations, CAG repeat variation, and SNP analysis in non‐deletion Smith–Magenis syndrome
28. Angelman syndrome 2005: Updated consensus for diagnostic criteria
29. Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm
30. Mosaicism of proximal 15q duplication/deletion resulting in Prader-Willi syndrome with normal methylation
31. Amphetamine, 3,4-Methylenedioxymethamphetamine, Lysergic Acid Diethylamide, and Metabolites of the Catecholamine Neurotransmitters Are Agonists of a Rat Trace Amine Receptor
32. Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development
33. Interstitial duplication of the short arm of chromosome 1 in a newborn with congenital heart disease and multiple malformations
34. SNRPN methylation patterns in germ cell tumors as a reflection of primordial germ cell development
35. Chromosome abnormalities of eighty-one pediatric germ cell tumors: Sex-, age-, site-, and histopathology-related differences?a Children's Cancer Group study
36. The Fate of Prenatally Diagnosed Turner Syndrome (TS)
37. Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2
38. Neural tube defects and deletions of 22q11
39. Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation
40. Angelman syndrome: Consensus for diagnostic criteria
41. Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics
42. Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region
43. The human gene fro apurinic/apyrimidinic endonuclease (HAP1): sequence and localization to chromosome 14 band q12
44. Åland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia
45. Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n
46. Chromosome abnormalities of eighty-one pediatric germ cell tumors: Sex-, age-, site-, and histopathology-related differences-a Children's Cancer Group study.
47. Therapy-related preleukemic syndrome.
48. The Importance of Chromosomal Studies in Ophthalmology.
49. Alpha-1-antitrypsin protease inhibitor (Pi) phenotypes in Down's syndrome patients and their parents.
50. Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies.
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