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1724篇 您的检索式:期刊名="Clin Genet"
    题名 作者 年代 出处 被引量
1X-linked myopia:Bornholm eye disease-linkage to DNA markers on the distal part of Xq显示文摘Schwartz M Haim M Skarsholm D 1990Clin Genet1990,38,:3
2A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi - Bickel syndrome 显示文摘Matsuura T T Tamura Y Chinen 2002Clin Genet2002,62,3:1
3Expanding the phenotypic spectrum of LICAM- associated disease 显示文摘Basel- Vanagaite L Straussberg R Friez MJ 2006Clin Genet2006,69,5:1
4Developmental programming of hypothalamic feeding circuits 显示文摘Bouret SG Simerly RB 2006Clin Genet2006,70,4:1
5Analysis of marker or complex chromosomal rearrangements present in pre-and post-natal karyotypes utilizing a combination of G-banding,spectral karyotyping and fluorescence in situ hybridization 显示文摘Heng H H Ye C J Yang F 2003Clin Genet2003,63,5:1
6Y chromosome length related to fetal loss显示文摘Westlake JR Robertson I L eddet SJ 1983Clin Genet1983,24,6:1
7The vitamin D receptor Fok Ⅰstart codon pol ymorphism and bone mineral density in osteoporotic postmenopausal French women 显示文摘Lucotte G Mercier G Burckel A 1999Clin Genet1999,56,:1
8Lipoprotein (a) in plasma,arterial wall,and thrombus from patients with aortic aneurysm显示文摘Papagrigorakis E Iliopoulos D Asimacopoulos PJ 1997Clin Genet1997,52,:1
9Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism显示文摘Forshew T Khaliq S Tee L 2005Clin Genet2005,68,2:1
10Detection of α- thalassema-1 (Southeast Asian type) and its application for prenatal diagnosis显示文摘Winichagoon P Fucharoen S Kanokpongsekdi S 1995Clin Genet1995,47,6:1
11Fragile site and chromosome breakpaints in con- stitutional rearrangements: fl Spontanenus abortions, stillbirths and newborns显示文摘Hecht F Hecht BK 1984Clin Genet1984,26,4:1
12Molecular epidemiologi- cal survey of haemoglohinopathies in the Guangxi Zhuang Autonomous Region of southern China显示文摘Xiong F Sun M Zhang X 2010Clin Genet2010,78,2:1
13Recent genomic advances in schizophrenia显示文摘Doherty J O'Donovan M Owen M 2012Clin Genet2012,81,2:1
14Adult-onset familial hypertrophic cardiomyopathy caused by a noval mutation,R694C,in the MYH7gene显示文摘Andersen PS Havndrup O Bundgaard H 1999Clin Genet1999,56,3:1
15The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder显示文摘Stam AJ Schothorst PF Vorstman JA 2009Appl Clin Genet2009,2,:1
16Mutations in the PCSK9 gene in Norwegian sub- jects with autosomal dominant hypercholesterolemia显示文摘Leren TP 2004Clin Genet2004,65,5:1
17Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population 显示文摘Sequeiros J Ramos EM Cerqueira J 2010Clin Genet2010,78,4:1
18The psycholog- ical impact of breast and ovarian cancer preventive options in BRCA1 and BRCA2 mutation earriers显示文摘Borreani C Manoukian S Bianchi E 2014Clin Genet2014,85,1:1
19Skoura-a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene 显示文摘Suriu C Khayat M Weiler M 2009Clin Genet2009,75,3:1
20Building a brain in the gut: Development of the enteric nervous system 显示文摘Goldstein A Hofstra R Bums A 2013Clin Genet2013,83,4:1
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