Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Sue Moyer Harasink"'
Autor:
Swati R. Chanchani, Hongyan Xie, Gurbax Sekhon, Ana M. Melikishvili, Sue Moyer Harasink, Harpreet Pall, Philip F. Giampietro
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background The Xq22.2 q23 is a complex genomic region which includes the genes MID2 and PLP1 associated with FG syndrome 5 and Pelizaeus–Merzbacher disease, respectively. There is limited information regarding the clinical outcomes observe
Externí odkaz:
https://doaj.org/article/fee0c01d399142eeb5612f106ddb6733
Autor:
Louise Amlie-Wolf, Krista Krol-Buch, Sue Moyer-Harasink, Leighanne Way, Maggie Bricker, Laura Baker, Pamela Arn, Karen Gripp
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101367- (2024)
Externí odkaz:
https://doaj.org/article/3fbe131c5a1b492b9a14d33e7e9a41cd
Autor:
Gurbax Sekhon, Hongyan Xie, Philip F Giampietro, Ana M. Melikishvili, Sue Moyer Harasink, Swati R. Chanchani, Harpreet Pall
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Background The Xq22.2 q23 is a complex genomic region which includes the genes MID2 and PLP1 associated with FG syndrome 5 and Pelizaeus–Merzbacher disease, respectively. There is limited information regarding the clinical outcomes observed in pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92a6f531834d27d344d6e4f0ded2e8f8
https://doi.org/10.1002/mgg3.1078
https://doi.org/10.1002/mgg3.1078
Genetic testing stewardship program: a novel service delivery model in a pediatric healthcare system
Autor:
Pamela Arn, Louise Amlie-Wolf, Sue Moyer Harasink, Morgan Thomas, Karen W. Gripp, Olivia Hiddemen, Laura A. Baker
Publikováno v:
Molecular Genetics and Metabolism. 132:S68
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a555028178f242eb12542ddc06922bec
https://doi.org/10.1016/s1096-7192(21)00183-9
https://doi.org/10.1016/s1096-7192(21)00183-9
Autor:
Agustin Legido, Chandrabhaga Miskin, Divya S. Khurana, Joseph J. Melvin, Sue Moyer Harasink, David A. Wenger
Publikováno v:
Pediatric Neurology. 57:98-100
Background Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder characterized by the absence of several sulfatases and resulting from mutations in the gene encoding the human C (alpha)-formylglycine-generating enzyme. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::278037c67cbdd367655e7ea99f65084c
https://doi.org/10.1016/j.pediatrneurol.2015.10.023
https://doi.org/10.1016/j.pediatrneurol.2015.10.023
Publikováno v:
Journal of genetic counseling. 16(6)
Few studies examine whether and how parental attitudes towards genetic testing change over time. In this study we interviewed parents of 14 children with newly identified hearing loss at two time points: after referral to genetics and 1 year later. Q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8179a7c18eb38d736062fd710f1d702a
https://pubmed.ncbi.nlm.nih.gov/17701452
https://pubmed.ncbi.nlm.nih.gov/17701452