Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Julianne E Hartmann"'
Publikováno v:
SAGE Open Medical Case Reports, Vol 2 (2014)
Introduction: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene. We report three cases of ornithine transcarbamylase deficiency to illus
Externí odkaz:
https://doaj.org/article/2d5c657000b143cc8c4d9db858c55ca5
Autor:
Anjali Aryamvally, Valentina Pilipenko, Jesse Slone, Taosheng Huang, Melanie F. Myers, Julianne E Hartmann
Publikováno v:
Journal of Genetic Counseling. 30:828-837
Mitochondrial disorders affect at least 1 in 5,000 individuals worldwide and are often incurable and fatal. Mitochondrial replacement therapy (MRT) is an in vitro fertilization technique used to prevent the transmission of mitochondrial disorders. Cu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b577693935b992d3c7c483acae8132f
https://doi.org/10.1002/jgc4.1382
https://doi.org/10.1002/jgc4.1382
Autor:
Margaret P. Adam, Ann Haskins Olney, Julianne E. Hartmann, Cynthia J. Curry, William B. Dobyns, Robin D. Clark, Eric T. Rush
Publikováno v:
American Journal of Medical Genetics Part A. 161:320-326
Gomez-Lopez-Hernandez syndrome (GLHS) is a rare neurocutaneous disorder. We are aware of thirty previously reported cases. We present four additional patients with this condition. Previously reported patients have shown the hallmark triad of rhomboce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30685f9dc634fe081f38d0337cd26301
https://doi.org/10.1002/ajmg.a.35817
https://doi.org/10.1002/ajmg.a.35817
Publikováno v:
Journal of genetic counseling. 24(2)
Although some researchers have attempted to define genetic counseling practice goals, no study has obtained consensus about the goals from a large sample of genetic counselors. The Reciprocal-Engagement Model (REM; McCarthy Veach, Bartels & LeRoy, 20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46d42827f7f35a19fdfc87d388422b17
https://pubmed.ncbi.nlm.nih.gov/23990320
https://pubmed.ncbi.nlm.nih.gov/23990320
Publikováno v:
SAGE Open Medical Case Reports, Vol 2 (2014)
SAGE Open Medical Case Reports
SAGE Open Medical Case Reports
Introduction: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene. We report three cases of ornithine transcarbamylase deficiency to illus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59307faca59303560c20dcf8c890d46f
https://doi.org/10.1177/2050313x14546348
https://doi.org/10.1177/2050313x14546348