dc.contributor.author | Sahin, Yasin | |
dc.contributor.author | SAR, Mehmet | |
dc.contributor.author | Bilguvar, Kaya | |
dc.contributor.author | TÜYSÜZ, Beyhan | |
dc.contributor.author | Meric, Ruya | |
dc.contributor.author | Ercan-Sencicek, Adife Gulhan | |
dc.contributor.author | ULUDAĞ ALKAYA, Dilek | |
dc.date.accessioned | 2021-03-03T12:34:00Z | |
dc.date.available | 2021-03-03T12:34:00Z | |
dc.date.issued | 2021 | |
dc.identifier.citation | Meric R., Ercan-Sencicek A. G. , ULUDAĞ ALKAYA D., Sahin Y., SAR M., Bilguvar K., TÜYSÜZ B., "A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant", CLINICAL DYSMORPHOLOGY, cilt.30, sa.1, ss.54-57, 2021 | |
dc.identifier.issn | 0962-8827 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_2ec6387a-1969-4d4d-80af-9c54d3b514c8 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/35979 | |
dc.identifier.uri | https://doi.org/10.1097/mcd.0000000000000350 | |
dc.language.iso | eng | |
dc.subject | Health Sciences | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Genetics | |
dc.subject | Molecular Biology | |
dc.subject | Genetics (clinical) | |
dc.subject | Life Sciences | |
dc.title | A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant | |
dc.type | Makale | |
dc.relation.journal | CLINICAL DYSMORPHOLOGY | |
dc.contributor.department | İstanbul Üniversitesi-Cerrahpaşa , , | |
dc.identifier.volume | 30 | |
dc.identifier.issue | 1 | |
dc.identifier.startpage | 54 | |
dc.identifier.endpage | 57 | |
dc.contributor.firstauthorID | 2507136 | |