Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Rolf Stottman"'
Autor:
Swetha Ramadesikan, Caitlyn Colwell, Mohammad Marhabaie, Leeran Dublin-Ryan, Iftekhar Showpnil, Umamaheswaran Gurusamy, Jesse Hunter, Allison Daley, Elizabeth Varga, Marco Leung, Rolf Stottmann, Bimal Chaudhari, Scott Hickey, Peter White, Daniel Koboldt, Richard Wilson
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101080- (2024)
Externí odkaz:
https://doaj.org/article/fad6429f01c340d3a5b62d38ac73cd53
Autor:
Dianne Laboy Cintron, Alison M. Muir, Abbey Scott, Marie McDonald, Kristin G. Monaghan, Teresa Santiago-Sim, Ingrid M. Wentzensen, Chiara De Luca, Francesco Brancati, David J. Harris, Cecilia Goueli, Rolf Stottmann, Carlos E. Prada, Marta Biderman Waberski, Heather C. Mefford
Publikováno v:
HGG Advances, Vol 3, Iss 1, Pp 100072- (2022)
Summary: We report seven affected individuals from six families with a recurrent, de novo variant in the ARPC4 gene (c.472C>T [p.Arg158Cys (GenBank: NM_005718.4)]). Core features in affected individuals include microcephaly, mild motor delays, and si
Externí odkaz:
https://doaj.org/article/b7eeb57bf1484bb7b4de6d3ef729ce71
Autor:
David J. Harris, Teresa Santiago Sim, Heather C Mefford, Chiara De Luca, Cecilia Goueli, Alison M. Muir, Kristin G. Monaghan, Carlos E. Prada, Francesco Brancati, Marie T. McDonald, Dianne Laboy Citron, Rolf Stottman, Marta Biderman Waberski, Abbey A. Scott, Ingrid M. Wentzensen
Publikováno v:
Human Genetics and Genomics Advances
HGG Advances, Vol 3, Iss 1, Pp 100072-(2022)
HGG Advances, Vol 3, Iss 1, Pp 100072-(2022)
Summary We report seven affected individuals from six families with a recurrent, de novo variant in the ARPC4 gene (c.472C>T [p.Arg158Cys (GenBank: NM_005718.4)]). Core features in affected individuals include microcephaly, mild motor delays, and sig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b288ddeade063558aa825c8a75396e3
http://europepmc.org/articles/PMC8756495
http://europepmc.org/articles/PMC8756495