Výsledky vyhledávání - Solenn Pruvost
- Zobrazuji výsledky 1 - 4 z 4
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1
Contribution of genetic ancestry and polygenic risk score in meeting vitamin B12 needs in healthy Brazilian children and adolescents Autor 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
Vydáno 2021Artigo -
2
Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing Autor 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
Vydáno 2014Artigo -
3
Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears Autor 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
Vydáno 2013Artigo -
4
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes Autor 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
Vydáno 2011Artigo
Vyhledávací nástroje:
Související témata
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