دورية أكاديمية
Preimplantation diagnosis for sonic hedgehog mutation causing familial holoprosencephaly.
| العنوان: | Preimplantation diagnosis for sonic hedgehog mutation causing familial holoprosencephaly. |
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| المؤلفون: | Verlinsky Y; Reproductive Genetics Institute, Chicago, IL, USA., Rechitsky S, Verlinsky O, Ozen S, Sharapova T, Masciangelo C, Morris R, Kuliev A |
| المصدر: | The New England journal of medicine [N Engl J Med] 2003 Apr 10; Vol. 348 (15), pp. 1449-54. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Boston, Massachusetts Medical Society. |
| مواضيع طبية MeSH: | Codon, Nonsense*, Genetic Testing/*methods , Holoprosencephaly/*diagnosis , Holoprosencephaly/*genetics , Preimplantation Diagnosis/*methods , Trans-Activators/*genetics, Blastomeres ; DNA Mutational Analysis ; Female ; Hedgehog Proteins ; Humans ; Male ; Pedigree ; Polymerase Chain Reaction |
| المشرفين على المادة: | 0 (Codon, Nonsense) 0 (Hedgehog Proteins) 0 (SHH protein, human) 0 (Trans-Activators) |
| تواريخ الأحداث: | Date Created: 20030411 Date Completed: 20030416 Latest Revision: 20091119 |
| رمز التحديث: | 20240627 |
| DOI: | 10.1056/NEJMoa022652 |
| PMID: | 12686701 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1533-4406 |
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| DOI: | 10.1056/NEJMoa022652 |