Որոնման արդյունքները - Michelle Buscarilli
- Ցուցադրվում են 1 - 4 արդյունքները 4
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1
Phenotypic spectrum of Costello syndrome individuals harboring the rare <i>HRAS</i> mutation p.Gly13Asp Débora Romeo Bertola, Michelle Buscarilli, Deborah L. Stabley, Laura Baker, Daniel Doyle, Dennis W. Bartholomew, Katia Sol‐Church, Karen W. Gripp
Հրապարակվել է 2017Artigo -
2
Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis Rodrigo A. Toledo, Berenice B. Mendonça, Maria Candida Barisson Villares Fragoso, Iberê Cauduro Soares, Madson Q. Almeida, Michelle Buscarilli de Moraes, Delmar Muniz Lourenço, Venâncio Avancini Ferreira Alves, Marcello D. Bronstein, S. P. A. Toledo
Հրապարակվել է 2010Artigo -
3
Rare variants in<i>SOS2</i>and<i>LZTR1</i>are associated with Noonan syndrome Guilherme Lopes Yamamoto, Meire Aguena, Monika Goś, Christina Hung, Jacek Pilch, Somayyeh Fahiminiya, Anna Abramowicz, Ingrid Cristian, Michelle Buscarilli, Michel Satya Naslavsky, Alexsandra C. Malaquias, Mayana Zatz, Olaf A. Bodamer, Jacek Majewski, Alexander A.L. Jorge, Alexandre C. Pereira, Chong Ae Kim, Maria Rita Passos‐Bueno, Débora Romeo Bertola
Հրապարակվել է 2015Artigo -
4
Genotype and phenotype spectrum of NRAS germline variants Franziska Altmüller, Christina Lißewski, Débora Romeo Bertola, Elisabetta Flex, Zornitza Stark, Stephanie Spranger, Gareth Baynam, Michelle Buscarilli, Sarah Dyack, Jane Gillis, Helger G. Yntema, Francesca Pantaleoni, Rosa LE van Loon, Sara MacKay, Kym Mina, Ina Schanze, Tiong Yang Tan, Maie Walsh, Susan M. White, Marena R. Niewisch, Sixto García‐Miñaúr, Diego Plaza, Mohammad Reza Ahmadian, Hélène Cavé, Marco Tartaglia, Martin Zenker
Հրապարակվել է 2017Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Biology
Gene
Genetics
Cancer research
KRAS
Mutation
Noonan syndrome
Costello syndrome
Germline mutation
HRAS
Missense mutation
Neuroblastoma RAS viral oncogene homolog
Phenotype
Adrenocortical carcinoma
Allele
Carcinogenesis
Endocrinology
Exome
Exome sequencing
Germline
Loss of heterozygosity
Molecular biology
PTPN11
Pedigree chart
Pituitary tumors
Proband
Tumor suppressor gene