Pub Date : 2019-10-08DOI: 10.31901/24566330.2019/19.04.734
Chaeyoung Lee
{"title":"Expression Quantitative Trait Loci for ALMS1 and Their Influence on the Symptoms of Alstrom Syndrome","authors":"Chaeyoung Lee","doi":"10.31901/24566330.2019/19.04.734","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.04.734","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2019-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47822482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-10-08DOI: 10.31901/24566330.2019/19.04.736
S. M.L
{"title":"Incidental Finding of Lynch Syndrome – Role of Genetic Counselling","authors":"S. M.L","doi":"10.31901/24566330.2019/19.04.736","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.04.736","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2019-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48278686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-09-08DOI: 10.31901/24566330.2019/19.03.731
S. A. Shah
{"title":"Linkage Analysis of Autosomal Recessive Non-syndromic Mental Retardation Locus in Pakistani Families","authors":"S. A. Shah","doi":"10.31901/24566330.2019/19.03.731","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.03.731","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2019-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47444483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-09-08DOI: 10.31901/24566330.2019/19.04.01
R. Khan
{"title":"Association of MTHFR C677T with Idiopathic Recurrent Pregnancy Loss in Anhui Province of China","authors":"R. Khan","doi":"10.31901/24566330.2019/19.04.01","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.04.01","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2019-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45783156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-09-08DOI: 10.31901/24566330.2019/19.03.723
A. Tanaçan
{"title":"Importance of Prenatal Diagnosis in Patients with History of Chromosomal Abnormalities","authors":"A. Tanaçan","doi":"10.31901/24566330.2019/19.03.723","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.03.723","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2019-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48538142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-07-08DOI: 10.31901/24566330.2019/19.03.733
M. Ferchichi
{"title":"Quality Assessment of DNA Extraction Methods from Formalin-Fixed Paraffin-Embedded Tissues","authors":"M. Ferchichi","doi":"10.31901/24566330.2019/19.03.733","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.03.733","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2019-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42513870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-06-08DOI: 10.31901/24566330.2019/19.1-3.732
V. K. Srivastava
{"title":"Sequencing Technologies: Introduction and Applications","authors":"V. K. Srivastava","doi":"10.31901/24566330.2019/19.1-3.732","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.1-3.732","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2019-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45333396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-06-08DOI: 10.31901/24566330.2019/19.03.735
Z. Yeğin
{"title":"Roles of p53 Codon 72 and miR-502-binding Site in the 3’-UTR of SET8 SNPs in Urinary Bladder Cancer Predisposition in Turkish Population","authors":"Z. Yeğin","doi":"10.31901/24566330.2019/19.03.735","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.03.735","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2019-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41619668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-05-08DOI: 10.31901/24566330.2019/19.02.724
B. M. Reddy
{"title":"Review of the Status of Knowledge on the Genetic Susceptibility of Indian Women for Polycystic Ovary Syndrome","authors":"B. M. Reddy","doi":"10.31901/24566330.2019/19.02.724","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.02.724","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2019-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49187440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-04-08DOI: 10.31901/24566330.2019/19.02.726
T. Le
{"title":"Identification of Novel Mutation delC336 and insC376 in Exon 4 of LDLR Gene in Vietnamese Patients with High Blood Cholesterol","authors":"T. Le","doi":"10.31901/24566330.2019/19.02.726","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.02.726","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2019-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43916003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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