نتائج البحث

Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China

• Authors : Fan Jiang; Liandong Zuo; Dongzhi Li

Subjects: Prevalence; δβ-thalassemia; HPFH

• Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-12 (2020)

تفاصيل العنوان

Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China.

• Authors : Jiang, Fan^1,2 (AUTHOR); Zuo, Liandong² (AUTHOR); Li, Dongzhi² (AUTHOR)

• Source: BMC Medical Genetics. 2/28/2020, Vol. 21 Issue 1, p1-12. 12p.

تفاصيل العنوان

Molecular epidemiology of DFNB1 deafness in France.

• Authors : Roux, Anne-Françoise¹ ; Pallares-Ruiz, Nathalie¹ ; Vielle, Anne¹

• Source: BMC Medical Genetics. 2004, Vol. 5, p5-10. 10p. 5 Charts.

تفاصيل العنوان

Molecular epidemiology of DFNB1 deafness in France

• Authors : Molinari Nicolas; Lina Geneviève; Artières Françoise

Subjects: Internal medicine; RC31-1245; Genetics

• Source: BMC Medical Genetics, Vol 5, Iss 1, p 5 (2004)

تفاصيل العنوان

Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations.

• Authors : Østern R; Department of Medical Genetics, University Hospital of North-Norway, NO9038 Tromsø, Norway. .; Fagerheim T

Subjects: Molecular Epidemiology* ; Mutation* ; Pedigree*

• Source: BMC medical genetics [BMC Med Genet] 2014 Jan 21; Vol. 15, pp. 12. Date of Electronic Publication: 2014 Jan 21.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

تفاصيل العنوان

Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data.

• Authors : Scotet V; INSERM U 613 Génétique Moléculaire et Génétique Epidémiologique, Brest, France. ; Le Gac G

Subjects: Hemochromatosis/Hemochromatosis/Hemochromatosis/*epidemiology ; Hemochromatosis/Hemochromatosis/Hemochromatosis/*genetics ; Histocompatibility Antigens Class I/Histocompatibility Antigens Class I/Histocompatibility Antigens Class I/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2005 Jun 01; Vol. 6, pp. 24. Date of Electronic Publication: 2005 Jun 01.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

تفاصيل العنوان

No association between the Ser9Gly polymorphism of the dopamine receptor D3 gene and schizophrenia: a meta-analysis of family-based association studies.

• Authors : Li, Xiao-na; Zheng, Ji-long; Wei, Xiao-han

Subjects: FIXED effects model; DOPAMINE receptors; ASIAN studies

• Source: BMC Medical Genetics; 4/21/2020, Vol. 21 Issue 1, p1-8, 8p

تفاصيل العنوان

Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre.

• Authors : Sienes Bailo P; Departamento de Genética. Servicio de Bioquímica Clínica, Hospital Universitario Miguel Servet. C/ Padre Arrupe, s/n. Consultas Externas. Planta 3ª. 50009, Zaragoza, Spain.; Lahoz R

Subjects: Trinucleotide Repeat Expansion*; Huntingtin Protein/Huntingtin Protein/Huntingtin Protein/*genetics ; Huntington Disease/Huntington Disease/Huntington Disease/*epidemiology

• Source: BMC medical genetics [BMC Med Genet] 2020 Nov 23; Vol. 21 (1), pp. 233. Date of Electronic Publication: 2020 Nov 23.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

تفاصيل العنوان

Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis.

• Authors : Tou J; Department of Pediatric Surgery, Children's Hospital Zhejiang University School of Medicine, Hangzhou, PR China. ; Wang L

Subjects: Genetic Variation*; Asian People/Asian People/Asian People/*genetics ; Hirschsprung Disease/Hirschsprung Disease/Hirschsprung Disease/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2011 Feb 25; Vol. 12, pp. 32. Date of Electronic Publication: 2011 Feb 25.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

تفاصيل العنوان

Genetic variation of glucose transporter-1 (GLUT1) and albuminuria in 10,278 European Americans and African Americans: a case-control study in the Atherosclerosis Risk in Communities (ARIC) study.

• Authors : Hsu CC; Department of Medicine, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA.; Kao WL

Subjects: Genome-Wide Association Study* ; Polymorphism, Single Nucleotide*; Albuminuria/Albuminuria/Albuminuria/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2011 Jan 19; Vol. 12, pp. 16. Date of Electronic Publication: 2011 Jan 19.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

تفاصيل العنوان