Αποτελέσματα αναζήτησης - Claudio Sandoval
- Εμφανίζονται 1 - 6 Αποτελέσματα από 6
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Hereditary Folate Malabsorption από James I. Geller, David Kronn, Somasundaram Jayabose, Claudio Sandoval
Έκδοση 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 από Rongbao Zhao, Sang Hee Min, Andong Qiu, Antoinette Sakaris, Gary L. Goldberg, Claudio Sandoval, J. Jeffrey Malatack, David S. Rosenblatt, I. David Goldman
Έκδοση 2007Artigo -
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Identification of an Intestinal Folate Transporter and the Molecular Basis for Hereditary Folate Malabsorption από Andong Qiu, Michaela Jansen, Antoinette Sakaris, Sang Hee Min, Shrikanta Chattopadhyay, Eugenia Tsai, Claudio Sandoval, Rongbao Zhao, Myles H. Akabas, I. David Goldman
Έκδοση 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> από 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
Έκδοση 2014Artigo -
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High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome από 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
Έκδοση 2015Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
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