Результати пошуку - Guylène Bertrand
- Показ 1 - 5 результатів із 5
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1
Dominant-Negative<i>GCMB</i>Mutations Cause an Autosomal Dominant Form of Hypoparathyroidism за авторством Michael Mannstadt, Guylène Bertrand, Mihaela Mureşan, G. Weryha, Bruno Leheup, Sirish R. Pulusani, Bernard Grandchamp, Harald Jüppner, Caroline Silve
Опубліковано 2008Artigo -
2
PTHR1 mutations associated with Ollier disease result in receptor loss of function за авторством Alain Couvineau, Vinciane Wouters, Guylène Bertrand, Christiane Rouyer, Bénédicte Gerard, Laurence M. Boon, Bernard Grandchamp, Miikka Vikkula, Caroline Silve
Опубліковано 2008Artigo -
3
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib за авторством Stéphanie Maupetit‐Mehouas, Virginie Mariot, Christelle Reynès, Guylène Bertrand, François Feillet, Jean‐Claude Carel, D. Simon, H. Bihan, Vincent Gajdos, Eglantine Ferrand Devouge, S. Shenoy, P. Agbo-Kpati, Anne Ronan, Catherine Naud-Saudreau, Anne Lienhardt, Caroline Silve, Agnès Linglart
Опубліковано 2010Artigo -
4
Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma за авторством Anne‐Sophie Jannot, Roubila Meziani, Guylène Bertrand, Bénédicte Gérard, V. Descamps, A. Archimbaud, Catherine Picard, L. Ollivaud, Nicole Basset‐Séguin, Delphine Kérob, Guy Lanternier, Célèste Lebbé, Philippe Saïag, B. Crickx, Françoise Clerget‐Darpoux, Bernard Grandchamp, Nadem Soufir, Melan-Cohort
Опубліковано 2005Artigo -
5
<i>PRKAR1A</i>and<i>PDE4D</i>Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance за авторством Agnès Linglart, Helena Fryssira, Olaf Hiort, Paul-Martin Holterhus, Guiomar Pérez de Nanclares, Jesús Argente, Claudine Heinrichs, Alma Kuechler, Giovanna Mantovani, Bruno Leheup, Philippe Wicart, Virginie Chassot, Dorothée Schmidt, Oscar Rubio‐Cabezas, Annette Richter-Unruh, Sara Berrade, Arrate Pereda, Emese Boros, M.T. Muñoz-Calvo, Marco Castori, Yasemin Güneş, Guylène Bertrand, Pierre Bougnères, Éric Clauser, Caroline Silve
Опубліковано 2012Artigo
Інструменти для пошуку:
Пов'язані теми
Biology
Gene
Genetics
Medicine
Mutation
Calcium
Cancer research
Internal medicine
Locus (genetics)
Parathyroid hormone
Phenotype
Albinism
Allele
Bisulfite sequencing
Calcium-sensing receptor
Chondrosarcoma
Context (archaeology)
CpG site
DNA methylation
Differentially methylated regions
Enchondroma
Endocrinology
Epigenetics
G protein-coupled receptor
GNAS complex locus
Gene expression
Genetic heterogeneity
Genetic predisposition
Genotype
Hyperphosphatemia