Результаты поиска - Claudio Sandoval
- Отображение 1 - 6 результаты of 6
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Hereditary Folate Malabsorption по James I. Geller, David Kronn, Somasundaram Jayabose, Claudio Sandoval
Опубликовано 2002Revisão -
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The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption по Rongbao Zhao, Sang Hee Min, Andong Qiu, Antoinette Sakaris, Gary L. Goldberg, Claudio Sandoval, J. Jeffrey Malatack, David S. Rosenblatt, I. David Goldman
Опубликовано 2007Artigo -
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Identification of an Intestinal Folate Transporter and the Molecular Basis for Hereditary Folate Malabsorption по Andong Qiu, Michaela Jansen, Antoinette Sakaris, Sang Hee Min, Shrikanta Chattopadhyay, Eugenia Tsai, Claudio Sandoval, Rongbao Zhao, Myles H. Akabas, I. David Goldman
Опубликовано 2006Artigo -
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Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes <i>TSR2</i> and <i>RPS28</i> по Karen W. Gripp, Cynthia J. Curry, Ann Haskins Olney, Claudio Sandoval, Jamie Fisher, Jessica X. Chong, Lisa Pilchman, Rebecca Sahraoui, Deborah L. Stabley, Katia Sol‐Church
Опубликовано 2014Artigo -
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High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome по Leanne de Kock, Yu Chang Wang, Timothée Revil, Dunarel Badescu, Bárbara Rivera, Nelly Sabbaghian, Mona K. Wu, Evan Weber, Claudio Sandoval, Saskia Hopman, Johannes H. M. Merks, Johanna M. van Hagen, Antonia H. Bouts, David A. Plager, Aparna Ramasubramanian, Linus Forsmark, Kristine L Doyle, Tonja Toler, Janine Callahan, Charlotte Engelenberg, Dorothée Bouron-Dal Soglio, John R. Priest, Jiannis Ragoussis, William D. Foulkes
Опубликовано 2015Artigo
Инструменты поиска:
Связанные темы
Biology
Gene
Genetics
Malabsorption
Mutation
Endocrinology
Medicine
Phenotype
Transporter
Acute megakaryoblastic leukemia
Biochemistry
Computational biology
Diamond–Blackfan anemia
Down syndrome
Epigenetics
Exome sequencing
Exon
Folic acid
Function (biology)
GATA1
Gastroenterology
Gene expression
Internal medicine
Leukemia
Loss function
Malabsorption syndromes
Membrane transport protein
Proband
RNA
Ribosome