Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Caterina Abdala Villa"'
Autor:
Mari Mori, Caterina Abdala Villa, Michael Zinsmeister, Melissa Hutchinson, Jirair Bedoyan, Miriam Conces, Diana Thomas, Ahmed Osman, Dennis Bartholomew
Publikováno v:
Molecular Genetics and Metabolism. 138:107463
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02b39551523043ddbf6157452215d0ec
https://doi.org/10.1016/j.ymgme.2023.107463
https://doi.org/10.1016/j.ymgme.2023.107463
Publikováno v:
Molecular Genetics and Metabolism. 138:107381
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76ed7026341361c793f492b5e7aa44a7
https://doi.org/10.1016/j.ymgme.2023.107381
https://doi.org/10.1016/j.ymgme.2023.107381
Publikováno v:
American Journal of Medical Genetics Part A. 185:3507-3509
Tetrasomy 21 is a rare occurrence. Only 14 cases have been reported in the literature, 8 of which are partial tetrasomy cases and 6 which are complete tetrasomy cases. Of the incidences, no proband with true complete tetrasomy 21 has survived the neo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd47fec68b129120e3228869f9813446
https://doi.org/10.1002/ajmg.a.62471
https://doi.org/10.1002/ajmg.a.62471
Publikováno v:
Molecular Genetics and Metabolism. 135:256
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::713d63187c9f9e6892143bc04290a58d
https://doi.org/10.1016/j.ymgme.2022.01.012
https://doi.org/10.1016/j.ymgme.2022.01.012
Autor:
Bhavan Modi, Jon D. Sharer, Maria Descartes, Anna C.E. Hurst, Katherine Mascia, Caterina Abdala Villa
Publikováno v:
Molecular Genetics and Metabolism. 132:S25
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9d011fa32b66fdd39e91ce3f694a1ccc
https://doi.org/10.1016/s1096-7192(21)00122-0
https://doi.org/10.1016/s1096-7192(21)00122-0