Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Mary Catherine V. Letinturier"'
Autor:
Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: “Ensuri
Externí odkaz:
https://doaj.org/article/669290e2ed32488ea080f09a5a972315
Autor:
van Karnebeek, Clara D. M.1 (AUTHOR) c.d.vankarnebeek@amsterdamumc.nl, O'Donnell-Luria, Anne2,3 (AUTHOR), Baynam, Gareth4 (AUTHOR), Baudot, Anaïs4 (AUTHOR), Groza, Tudor5,6 (AUTHOR), Jans, Judith J. M.7 (AUTHOR), Lassmann, Timo8 (AUTHOR), Letinturier, Mary Catherine V.9 (AUTHOR), Montgomery, Stephen B.10 (AUTHOR), Robinson, Peter N.11 (AUTHOR), Sansen, Stefaan12 (AUTHOR), Mehrian-Shai, Ruty13 (AUTHOR), Steward, Charles14 (AUTHOR), Kosaki, Kenjiro15 (AUTHOR), Durao, Patricia16 (AUTHOR), Sadikovic, Bekim17,18 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 9/27/2024, Vol. 19 Issue 1, p1-16. 16p.
Autor:
Beaverson, Katherine L., Julkowska, Daria, Letinturier, Mary Catherine V., Aartsma-Rus, Annemieke, Austin, Jennifer, Bueren, Juan, Frost, Simon, Hamamura, Misako, Larkindale, Jane, LaRosa, Greg, Magenheim, Rita, Merico, Annamaria, Gerdina Pasmooij, Anna Maria, Pirard, Vinciane, Ekow Thomford, Nicholas, Wada, Michihiko, Wong-Rieger, Durhane, Hartman, Adam L.
Publikováno v:
Therapeutic Advances in Rare Disease; Jan-Dec2023, Vol. 4, p1-15, 15p
Publikováno v:
Genomics & Genetics Weekly; 10/18/2024, p1595-1595, 1p