検索結果 - Solenn Pruvost
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1
Contribution of genetic ancestry and polygenic risk score in meeting vitamin B12 needs in healthy Brazilian children and adolescents 著者: Carlos Alessandro Fuzo, Fábio da Veiga Ued, Sofia Moco, Ornella Cominetti, Sylviane Métairon, Solenn Pruvost, Aline Charpagne, Jérôme Carayol, Raul Torrieri, Wilson A. Silva, Patrick Descombes, Jim Kaput, Jacqueline Pontes Monteiro
出版事項 2021Artigo -
2
Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing 著者: Vincent Morinière, Karin Dahan, Pascale Hilbert, Marieline Lison, Saïd Lebbah, Alexandra Topa, Christine Bôle‐Feysot, Solenn Pruvost, Patrick Nitschké, Emmanuelle Plaisier, Bertrand Knebelmann, Marie‐Alice Macher, Laure‐Hélène Noël, Marie‐Claire Gubler, Corinne Antignac, Laurence Heidet
出版事項 2014Artigo -
3
Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears 著者: Christopher T. Gordon, Florence Petit, Peter M. Kroisel, Linda P. Jakobsen, Roseli Maria Zechi‐Ceide, Myriam Oufadem, Christine Bôle‐Feysot, Solenn Pruvost, Cécile Masson, Frédéric Torès, Thierry Hieu, Patrick Nitschké, Pernille Lindholm, P. Pellerin, Maria Leine Guion‐Almeida, Nancy Mizue Kokitsu‐Nakata, Siulan Vendramini‐Pittoli, Arnold Münnich, Stanislas Lyonnet, Muriel Holder‐Espinasse, Jeanne Amiel
出版事項 2013Artigo -
4
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes 著者: Audrey Putoux, Sophie Thomas, Karlien L. M. Coene, Erica E. Davis, Yasemin Alanay, Gönül Oğur, Elif Uz, Daniela Buzas, Céline Gomes, Sophie Patrier, Christopher Bennett, Nadia Elkhartoufi, Marie-Hélène Saint Frison, Luc Rigonnot, Nicole Joyé, Solenn Pruvost, Gülen Eda Ütine, Koray Boduroğlu, Patrick Nitschké, L. Fertitta, Christel Thauvin‐Robinet, Arnold Münnich, Valérie Cormier‐Daire, Raoul C. M. Hennekam, Estelle Colin, Nurten Akarsu, Christine Bôle‐Feysot, Nicolas Cagnard, Alain Schmitt, Nicolas Goudin, Stanislas Lyonnet, Férechté Encha‐Razavi, Jean‐Pierre Siffroi, Mark Winey, Nicholas Katsanis, Marie Gonzalès, Michel Vekemans, Philip L. Beales, Tania Attié‐Bitach
出版事項 2011Artigo
関連主題
Biology
Gene
Genetics
Medicine
Mutation
Alport syndrome
Amplicon
Ancestry-informative marker
Biochemistry
Bioinformatics
Ciliopathies
Ciliopathy
Cilium
Computational biology
DNA sequencing
Endocrinology
Endothelin 1
Environmental health
Enzyme
Exome sequencing
Exon
Furin
Genetic association
Genetic variation
Genotype
Genotyping
Glomerulonephritis
Hedgehog
Hedgehog signaling pathway
Kidney