Výsledky vyhledávání - M. L. Giovannucci-Uzielli
- Zobrazuji výsledky 1 - 3 z 3
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Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract Autor Frances R. Goodman, Stefan Mundlos, Yasuteru Muragaki, Dian Donnai, M. L. Giovannucci-Uzielli, Elisabetta Lapi, F. Majewski, Julie McGaughran, C McKeown, William Reardon, Joseph Upton, R M Winter, Bjørn R. Olsen, Peter Scambler
Vydáno 1997Artigo -
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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome Autor Céline Huber, Anee-Lise Delezoide, Fabien Guimiot, Clarisse Baumann, Valérie Malan, Martine Le Merrer, Daniela Bezerra Da Silva, Dominique Bonneau, Pierre Chatelain, Carol Chu, Robin D. Clark, Helen Cox, Patrick Edery, Thomas Édouard, Virginia Fano, Kate Gibson, Gabriele Gillessen‐Kaesbach, M. L. Giovannucci-Uzielli, Luitgard Graul‐Neumann, Johana-Maria van Hagen, Liselot van Hest, Dafne Dain Gandelman Horovitz, Judith Melki, Carl‐Joachim Partsch, H Plauchu, Anna Rajab, Massimiliano Rossi, David Sillence, Elisabeth Steichen‐Gersdorf, Helen Stewart, Sheila Unger, Martin Zenker, Arnold Münnich, Valérie Cormier‐Daire
Vydáno 2008Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Phenotype
Syndactyly
Allele
Brachydactyly
Chromosome
Dwarfism
Ectodermal dysplasia
Ectrodactyly
Endocrinology
Expressivity
Gene duplication
Gene expression
Genetic heterogeneity
Homeobox
Locus (genetics)
Mutation
Penetrance
Short stature
Stop codon
Trinucleotide repeat expansion