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BMC medical genetics

Showing results (1-10 of 2,328) with videos related to

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BMC Medical Genetics|October 20, 2020
Investigation of INDEL variants in apoptosis: the relevance to gastric cancerGiovanna Chaves Cavalcante, Milene Raiol de Moraes, Cristina Maria Duarte Valente, et al.
BMC Medical Genetics|October 22, 2020
The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysisThitiya Lukkunaprasit, Sasivimol Rattanasiri, Saowalak Turongkaravee, et al.
BMC Medical Genetics|October 22, 2020
Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case reportAnastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, et al.
BMC Medical Genetics|April 2, 2020
Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature reviewRui Yang, Qingtao Kong, Yuanyuan Duan, et al.
BMC Medical Genetics|February 1, 2020
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case reportThi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, et al.
BMC Medical Genetics|February 29, 2020
Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicingFang Liu, Barbara Calhoun, Md Suhail Alam, et al.
BMC Medical Genetics|March 30, 2020
Association between lipoprotein(a) (Lp(a)) levels and Lp(a) genetic variants with coronary artery calcificationSonali Pechlivanis, Amir A Mahabadi, Per Hoffmann, et al.
BMC Medical Genetics|March 29, 2020
A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in HungaryAndrea Sümegi, Zoltán Hendrik, Tamás Gáll, et al.
BMC Medical Genetics|December 18, 2020
A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean populationJung Yeon Seo, Joong-Gon Shin, Byeong Ju Youn, et al.
BMC Medical Genetics|January 4, 2020
Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITFAthar Khalil, Samer Bou Karroum, Rana Barake, et al.
Pageof 233

Showing results (1-10 of 2,328) with videos related to

Sort By:
Pageof 233
BMC Medical Genetics|October 20, 2020
Investigation of INDEL variants in apoptosis: the relevance to gastric cancerGiovanna Chaves Cavalcante, Milene Raiol de Moraes, Cristina Maria Duarte Valente, et al.
BMC Medical Genetics|October 22, 2020
The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysisThitiya Lukkunaprasit, Sasivimol Rattanasiri, Saowalak Turongkaravee, et al.
BMC Medical Genetics|October 22, 2020
Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case reportAnastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, et al.
BMC Medical Genetics|April 2, 2020
Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature reviewRui Yang, Qingtao Kong, Yuanyuan Duan, et al.
BMC Medical Genetics|February 1, 2020
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case reportThi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, et al.
BMC Medical Genetics|February 29, 2020
Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicingFang Liu, Barbara Calhoun, Md Suhail Alam, et al.
BMC Medical Genetics|March 30, 2020
Association between lipoprotein(a) (Lp(a)) levels and Lp(a) genetic variants with coronary artery calcificationSonali Pechlivanis, Amir A Mahabadi, Per Hoffmann, et al.
BMC Medical Genetics|March 29, 2020
A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in HungaryAndrea Sümegi, Zoltán Hendrik, Tamás Gáll, et al.
BMC Medical Genetics|December 18, 2020
A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean populationJung Yeon Seo, Joong-Gon Shin, Byeong Ju Youn, et al.
BMC Medical Genetics|January 4, 2020
Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITFAthar Khalil, Samer Bou Karroum, Rana Barake, et al.
Pageof 233