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Author/Creator Monnier, Nicole

2. Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene. Issue 10 (14th May 2014)

Authors:
Romero, Norma B; Xie, Ting; Malfatti, Edoardo; Schaeffer, Ursula; Böhm, Johann; Wu, Bin; Xu, Fengping; Boucebci, Samy; Mathis, Stéphane; Neau, Jean-Philippe; Monnier, Nicole; Fardeau, Michel; Laporte, Jocelyn
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 85:Issue 10(2014)
Page Start:
1149
Record Type:
Journal Article
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3. Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures. Issue 12 (24th September 2014)

Authors:
Thevenon, Julien; Monnier, Nicole; Callier, Patrick; Dieterich, Klaus; Francoise, Michel; Montgomery, Tara; Kjaergaard, Susanne; Neas, Katherine; Dixon, Joanne; Dahm, Thomas Lee; Huet, Frédéric; Ragon, Clémence; Mosca‐Boidron, Anne‐Laure; Marle, Nathalie; Duplomb, Laurence; Aubriot‐Lorton, Marie‐...
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 12(2014.)
Page Start:
3027
Record Type:
Journal Article
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4. Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies. Issue 7 (1st May 2014)

Authors:
Marttila, Minttu; Lehtokari, Vilma‐Lotta; Marston, Steven; Nyman, Tuula A.; Barnerias, Christine; Beggs, Alan H.; Bertini, Enrico; Ceyhan‐Birsoy, Özge; Cintas, Pascal; Gerard, Marion; Gilbert‐Dussardier, Brigitte; Hogue, Jacob S.; Longman, Cheryl; Eymard, Bruno; Frydman, Moshe; Kang, Peter B.; Kl...
Journal:
Human mutation
Issue:
Volume 35:Issue 7(2014:Jul.)
Page Start:
779
Record Type:
Journal Article
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