Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Karangwa, O. R."'
Autor:
Muhizi, C., Irere, H., Tuyishimire, B., Ndatinya, A., Karangwa, O. R., Rutarama, F., Mutesa, L., Nsanzabaganwa, C.
Publikováno v:
Rwanda Medical Journal; Vol. 79 No. 4 (2022); 5-8
INTRODUCTION: Neurofibromatosis Type 1 (NF1) or Von Recklinghausen’s disease, is a rare genetic disease characterized by multiple benign tumors of nerves and skin (neurofibromas), and skin decorations. However, it is multisystem and can affect each
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52e724cdd16391173b2687b639ea6d53
https://doi.org/10.4314/rmj.v79i4.9
https://doi.org/10.4314/rmj.v79i4.9
Autor:
Tuyishimire, B., Irere, H., Rutagarama, F., Ndatinya, A., Karangwa, O. R., Gasana, A., Nsanzabaganwa, C., Mutesa, L.
Publikováno v:
Rwanda Medical Journal; Vol. 79 No. 3 (2022); 9-13
INTRODUCTION: Disorders of sex development (DSDs) are genetic abnormalities characterized by discordance between phenotypic, gonadal, and genetic sex. They are grouped into two categories based on karyotype: 46, XX DSD and 46, XY DSD.CASES: We review
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aa0ffd37bf6a447824be5d3063b4a9f
https://doi.org/10.4314/rmj.v79i3.9
https://doi.org/10.4314/rmj.v79i3.9
Autor:
Tuyishimire, B., Irere, H., Dukuze, N., Iradukunda, B., Muhizi, C., Ndatinya, A., Karangwa, O. R., Rutagarama, F., Nsanzabaganwa, C., Mutesa, L.
Publikováno v:
Rwanda Medical Journal; RMJ 80 (1); 5-8
INTRODUCTION: While Beckwith-Wiedemann syndrome is among rare genomic imprinting disorders, its diagnosis still presents challenges in clinical settings. Therefore, the aim of this work is to present different phenotypic features of this syndrome. CA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=78975075580c::429d5467154dd7504fbed07703821a23
https://www.ajol.info/index.php/rmj/article/view/245090
https://www.ajol.info/index.php/rmj/article/view/245090