المؤلفون: MacMillan Andrée, Macgregor David, Holinski-Feder Elke, Mangelsdorf Marie, Finnis Merran, Cason A Lauren, Stepp Monica L, Holden Jeanette JA, Gecz Jozef, Stevenson Roger E, Schwartz Charles E

المصدر: BMC Medical Genetics, Vol 6, Iss 1, p 16 (2005)

مصطلحات موضوعية: Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.biomedcentral.com/1471-2350/6/16; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/338cd399448d4c11b86065723c7421b5

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تسجيل الدخول للوصول الكامل.

المؤلفون: Finnis, Merran, Dayan, Sonia, Hobson, Lynne, Chenevix-Trench, Georgia, Friend, Kathryn, Ried, Karin, Venter, Deon, Woollatt, Erica, Baker, Elizabeth, Richards, Robert I.

المصدر: Human Molecular Genetics; May2005, Vol. 14 Issue 10, p1341-1349, 9p

المؤلفون: Stepp, Monica L, Cason, A Lauren, Finnis, Merran, Mangelsdorf, Marie, Holinski-Feder, Elke, Macgregor, David, MacMillan, Andree, Holden, Jeanette JA, Gecz, Jozef, Stevenson, Roger E, Schwartz, Charles E

المصدر: BMC Medical Genetics; 2005, Vol. 6, p16-4, 4p, 1 Graph

مصطلحات موضوعية: GENETIC disorders, INTELLECTUAL disabilities, X chromosome abnormalities, X-linked intellectual disabilities, GENETICS

المؤلفون: Finnis, Merran L, Gibson, Mark A

المصدر: Journal of Biological Chemistry; September 1997, Vol. 272 Issue: 36 p22817-22823, 7p

المؤلفون: Ried, Karin, Finnis, Merran, Hobson, Lynne, Mangelsdorf, Marie, Dayan, Sonia, Nancarrow, Julie K., Woollatt, Erica, Kremmidiotis, Gabriel, Gardner, Alison, Venter, Deon, Baker, Elizabeth, Richards, Robert I.

المصدر: Human Molecular Genetics; Jul2000, Vol. 9 Issue 11, p1651, 1p

المؤلفون: Sarafidou T; Department of Biology, University of Crete, and Institute of Molecular Biology and Biotechnology(IMBB), Foundation of Research and Technology (FORTH-GR), P.O. Box 2208, 714 09 Heraklion, Crete, Greece., Kahl C, Martinez-Garay I, Mangelsdorf M, Gesk S, Baker E, Kokkinaki M, Talley P, Maltby EL, French L, Harder L, Hinzmann B, Nobile C, Richkind K, Finnis M, Deloukas P, Sutherland GR, Kutsche K, Moschonas NK, Siebert R, Gécz J

مؤلفون مشاركون: European Collaborative Consortium for the Study of ADLTE

المصدر: Genomics [Genomics] 2004 Jul; Vol. 84 (1), pp. 69-81.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 8800135 Publication Model: Print Cited Medium: Print ISSN: 0888-7543 (Print) Linking ISSN: 08887543 NLM ISO Abbreviation: Genomics Subsets: MEDLINE

مواضيع طبية MeSH: DNA Methylation*, Chromosome Fragile Sites/*genetics , Chromosome Fragility/*genetics , Nuclear Proteins/*genetics , Trinucleotide Repeat Expansion/*genetics , Trinucleotide Repeats/*genetics, Alleles ; Alternative Splicing/genetics ; Amino Acid Sequence ; Humans ; Intranuclear Space/metabolism ; Molecular Sequence Data ; Nuclear Proteins/metabolism ; Organ Specificity/genetics ; Sequence Alignment ; Transcription, Genetic/genetics