| DC Field | Value | Language |
|---|
| dc.contributor.author | Abdulsamad Wafa, Faten Moassass | - |
| dc.contributor.author | Suher Almedani, Thomas Liehr | - |
| dc.contributor.author | Kathleen Wilhelm | - |
| dc.date.accessioned | 2021-07-12T12:52:14Z | - |
| dc.date.available | 2021-07-12T12:52:14Z | - |
| dc.date.issued | 2020 | - |
| dc.identifier.citation | A novel heterozygous variant in exon 32 of the CHD7 gene (c.6923C>T) in a Syrian family with Kallmann syndrome / Abdulsamad Wafa [et al.] // Научные результаты биомедицинских исследований. - 2020. - Т.6, №2.-С. 154-159. - Doi: 10.18413/2658-6533-2020-6-2-0-1. - Refer.: p. 158-159. | ru |
| dc.identifier.uri | http://dspace.bsu.edu.ru/handle/123456789/43230 | - |
| dc.description.abstract | To report a paternal transmission of a variant in exon 32 of the CHD7 gene (c.6923C>T) in a familial case originally suggested to be affected by KS | ru |
| dc.language.iso | en | ru |
| dc.subject | medicine | ru |
| dc.subject | medical genetics | ru |
| dc.subject | heterogeneity | ru |
| dc.subject | mutation | ru |
| dc.subject | CHARGE syndrome | ru |
| dc.subject | hypogonadotropic hypogonadism | ru |
| dc.subject | anosmia | ru |
| dc.title | A novel heterozygous variant in exon 32 of the CHD7 gene (c.6923C>T) in a Syrian family with Kallmann syndrome | ru |
| dc.type | Article | ru |
| Appears in Collections: | Т. 6, вып. 2
|
