Zobrazeno 1 - 10
of 178
pro vyhledávání: '"Wiegers AM"'
Autor:
Cintra, Hiago Azevedo1 (AUTHOR), Rocha, Danielle Nascimento1 (AUTHOR), da Costa, Ana Carolina Carioca2 (AUTHOR), Tyszler, Latife Salomão3 (AUTHOR), Freitas, Silvia3 (AUTHOR), de Araujo, Leonardo Abreu3 (AUTHOR), Crozoe, Lisanne Incoutto3 (AUTHOR), de Paula, Luísa Ribeiro3 (AUTHOR), Correia, Patricia Santana4 (AUTHOR), Gomes, Leonardo Henrique Ferreira1 (AUTHOR), da Cunha Guida, Letícia1 (AUTHOR) leticia.guida@fiocruz.br
Publikováno v:
Orphanet Journal of Rare Diseases. 6/20/2024, Vol. 19 Issue 1, p1-12. 12p.
Autor:
Ben A. Oostra, Annemieke J.M.H. Verkerk, D. J. J. Halley, de Vries Bb, M. F. Niermeijer, Wiegers Am, J. P. Fryns, de Graaff E, L. M. G. Curfs, Van Hemel Jo
Publikováno v:
European journal of human genetics : EJHG. 1(1)
The fragile X mental retardation syndrome is caused by unstable expansion of a CGG repeat in the FMR-1 gene. Clinical expression is associated with a large expansion of the CGG repeat. The mutation in the FMR-1 gene and the cytogenetic expression of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed8732bd765295cc20153134a065e92f
https://pubmed.ncbi.nlm.nih.gov/8069653
https://pubmed.ncbi.nlm.nih.gov/8069653
Autor:
Acero-Garcés, David O.1, Saldarriaga, Wilmar1,2 wilmar.saldarriaga@correounivalle.edu.co, Cabal-Herrera, Ana M.3, Rojas, Christian A.1, Hagerman, Randi J.4,5
Publikováno v:
Colombia Medica. 2023, Vol. 54 Issue 2, p1-22. 22p.
Autor:
Protic, Dragana, Breeze, Elizabeth, Mendoza, Guadalupe, Zafarullah, Marwa, Abbeduto, Leonard, Hagerman, Randi, Coffey, Christopher, Cudkowicz, Merit, Durbin-Johnson, Blythe, Ashwood, Paul, Berry-Kravis, Elizabeth, Erickson, Craig A., Filipink, Robin, Gropman, Andrea, Lehwald, Lenora, Maxwell-Horn, Angela, Morris, Stephanie, Bennett, Amanda Palladino, Prock, Lisa, Talboy, Amy
Publikováno v:
SAGE Open Medicine; 9/29/2024, p1-10, 10p, 1 Chart, 1 Graph
Autor:
de Vries BB; Department of Clinical Genetics, University Hospital Dijkzigt, Rotterdam, The Netherlands., Wiegers AM, Smits AP, Mohkamsing S, Duivenvoorden HJ, Fryns JP, Curfs LM, Halley DJ, Oostra BA, van den Ouweland AM, Niermeijer MF
Publikováno v:
American journal of human genetics [Am J Hum Genet] 1996 May; Vol. 58 (5), pp. 1025-32.
Autor:
Wiegers AM; Pedologisch Instituut De Hondsberg, Oisterwijk, The Netherlands., Curfs LM, Meijer H, Oostra B, Fryns JP
Publikováno v:
Genetic counseling (Geneva, Switzerland) [Genet Couns] 1994; Vol. 5 (4), pp. 377-80.
Autor:
Wiegers AM; Hondsberg Research Department, Oisterwijk, The Netherlands., Curfs LM, Vermeer EL, Fryns JP
Publikováno v:
American journal of medical genetics [Am J Med Genet] 1993 Aug 15; Vol. 47 (2), pp. 216-20.
Publikováno v:
Clinical genetics [Clin Genet] 1993 Jun; Vol. 43 (6), pp. 326-7.
Autor:
de Vries BB; Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands., Wiegers AM, de Graaff E, Verkerk AJ, Van Hemel JO, Halley DJ, Fryns JP, Curfs LM, Niermeijer MF, Oostra BA
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 1993; Vol. 1 (1), pp. 72-9.
Autor:
Wiegers AM; Observation Center De Hondsberg, Oisterwijk, The Netherlands., Curfs LM, Fryns JP
Publikováno v:
Birth defects original article series [Birth Defects Orig Artic Ser] 1992; Vol. 28 (1), pp. 93-7.