Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Carol M, Stephens"'
Autor:
Niamh McSweeney, Brian McNamara, Geraldine B Boylan, Michael Moore, Carol M Stephens, Andreea M Pavel, Sean R Mathieson
Publikováno v:
HRB Open Research, Vol 5 (2022)
Pallister Killian Syndrome (PKS) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. The syndrome is characterised by typical craniofacial dysmorphism, congenital anomalies and intellectual disability. Epilepsy
Externí odkaz:
https://doaj.org/article/8212cb06d1e849b08d3655d9f86485d2
Autor:
Niamh McSweeney, Brian McNamara, Geraldine B Boylan, Carol M Stephens, Andreea M Pavel, Brian H Walsh, Sean R Mathieson
Publikováno v:
HRB Open Research, Vol 4 (2021)
Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessive neuro-metabolic disorder caused by a mutation in the sulfite oxidase (SUOX) gene situated on chromosome 12. Due to the deficiency of this mitochondrial enzyme (sulfite oxidase),
Externí odkaz:
https://doaj.org/article/11c5afef0d7740339ed10c5dec8e71ba
Publikováno v:
Pediatric research.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::39240af881146ac9f4e9c57d4c2e6d99
https://pubmed.ncbi.nlm.nih.gov/35854083
https://pubmed.ncbi.nlm.nih.gov/35854083
Autor:
Carol M Stephens, Andreea M Pavel, Sean R Mathieson, Niamh McSweeney, Brian McNamara, Michael Moore, Geraldine B Boylan
Publikováno v:
HRB Open Research. 5:14
Pallister Killian Syndrome (PKS) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. The syndrome is characterised by typical craniofacial dysmorphism, congenital anomalies and intellectual disability. Epilepsy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eafbcf06535be85a7fd4892f2c6e55ca
https://doi.org/10.12688/hrbopenres.13493.1
https://doi.org/10.12688/hrbopenres.13493.1
Autor:
Carol M Stephens, Brian McNamara, Niamh McSweeney, Sean Mathieson, Geraldine B. Boylan, Brian H. Walsh, Andreea M Pavel
Publikováno v:
HRB Open Research
Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessive neuro-metabolic disorder caused by a mutation in the sulfite oxidase (SUOX) gene situated on chromosome 12. Due to the deficiency of this mitochondrial enzyme (sulfite oxidase),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eda7fe573b6c29769b2fa16106852916
https://doi.org/10.12688/hrbopenres.13442.1
https://doi.org/10.12688/hrbopenres.13442.1