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Human Genetics|July 17, 2021
An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databasesLyubov E Salnikova, Dmitry S Kolobkov, Darya A Sviridova, et al.Human Genetics|July 26, 2021
Molecular genetic landscape of hereditary hearing loss in PakistanSadaf NazHuman Genetics|February 1, 1988
Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremiaM Schwartz, H M Yang, E Niebuhr, et al.Human Genetics|February 1, 1988
The peculiar spectrum of beta-thalassemia genes in TunisiaJ Chibani, M Vidaud, P Duquesnoy, et al.Human Genetics|January 1, 1988
Fanconi's anaemia: correlation of genetic complementation group with psoralen/UVA responseM Digweed, S Zakrzewski-Lüdcke, K SperlingHuman Genetics|January 1, 1988
A disease with features of cutis laxa and Ehlers-Danlos syndrome. Report of a mother and daughterM Tsukahara, H Shinkai, C Asagami, et al.Human Genetics|January 1, 1988
Assignment of the human progesterone receptor to the q22 band of chromosome 11M G Mattei, A Krust, U Stropp, et al.Human Genetics|February 1, 1988
The CpG dinucleotide and human genetic diseaseD N Cooper, H YoussoufianHuman Genetics|February 1, 1988
Frequency of tri- and multiradial configurations in fragile X chromosomesI Subrt, K StirskáHuman Genetics|January 3, 2021
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomesMuhammad Ali, Shahid Y Khan, Tony A Rodrigues, et al.Pageof 957