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Sorbitol dehydrogenase (EC.1.1.1.14) polymorphism in human seminal plasmaHaploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish familyTPA stimulation culture for improved detection of t(11;14)(q13;q32) in mantle cell lymphomaGenetic instability in human mismatch repair deficient cancersPEG1 expression in maternal uniparental disomy 7Assignment of ferritin L gene (FTL) to human chromosome band 19q13.3 by in situ hybridizationA gene for non-specific X-linked mental retardation (MRX55) is located in Xp11Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2Chromosomal localization of two KOX zinc finger genes on chromosome bands 7q21-q22Possible localization of the glutathione reductase (EC 1.6.4.2) on the 8p21 bandThe history of cytogenetics Portraits of some pioneers♢1TranslatedGeographic distribution of 119 alleles of the alpha and beta globin genes detected in 432 French Caucasian carriers of haemoglobin variant.Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation.A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features.A new family with extra material on proximal 15q.The malignant primate?[French Society for Human Genetics. "Genetics in Practice" Commission. Core scientific data of use in genetic counseling. Hemochromatosis][French Society for Human Genetics. "Genetics in Practice" Commission. Core scientific data of use in genetic counseling. Familial Mediterranean fever]Complex chromosome abnormality mimicking t(8;21)in an acute myeloblastic leukemia.Joint effect of G1691A factor V point mutation and factor VII Arg/Gln(353) gene polymorphism on the risk of premature coronary artery disease.A novel translocation, t(9;21)(q13;q22) rearranging the RUNX1 gene in acute myelomonocytic leukemia.Interstitial deletion of chromosome 9q with coexistence of the deleted segment as a ring chromosome. A case report.Who's who on Mount Olympus: Bayesian solutions.[Bank of human diploid cells with abnormal karyotypes]Partial monosomy of the long arm of chromosome 11 in a severely affected child.Are cells with trisomy 10 always malignant in hematopoietic disorders?De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis.Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature.Probing the human genome in search for a new 3q syndrome.Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature.Gastric carcinoma in Sotos syndrome (cerebral gigantism).Reassessment of two apparent deletions of chromosome 16p to an ins(11;16) and a t(1;16) by chromosome painting.Human TIP49b/RUVBL2 gene: genomic structure, expression pattern, physical link to the human CGB/LHB gene cluster on chromosome 19q13.3.Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature.Hypomelanosis of ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism.Molecular cytogenetics, RFLP analysis and clinical characterization of a de novo trisomy 10p case.inv(9)(p24q13) in three sterile brothers.Genetic differentiation of Yemeni people according to rhesus and Gm polymorphisms.Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6.The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR).
P1433
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P1433
description
revista científica
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revue scientifique
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rivista scientifica
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scientific journal
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wetenschappelijk tijdschrift van Elsevier
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wissenschaftliche Fachzeitschrift
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науковий журнал
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Annales de Génétique
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Annales de Génétique
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Annales de Génétique
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Annales de Génétique
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Annales de Génétique
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Annales de Génétique
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Annales de génétique
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Annales de Génétique
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Annales de Génétique
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Annales de Génétique
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Annales de Génétique
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Annales de Génétique
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Annales de Génétique
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Annales de génétique
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Annales de Génétique
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Annales de Génétique
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Annales de Génétique
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Annales de Génétique
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Annales de Génétique
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Annales de Génétique
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Annales de génétique
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P3181
P4616
P1055
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P1159
P123
P1476
Annales de Génétique
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