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Le Merrer, Martine
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1

Expanding the phenotypic spectrum of variants in PDE4D/PRKA..:

Michot, Caroline ; Le Goff, Carine ; Blair, Edward...
European Journal of Human Genetics.  26 (2018)  11 - p. 1611-1622 , 2018
Link: https://doi.org/10.1038/..
 
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2

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ..:

Briggs, Tracy A. ; Rice, Gillian I. ; Adib, Navid...
Journal of Clinical Immunology.  36 (2016)  5 - p. 529-530 , 2016
Link: https://doi.org/10.1007/..
 
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3

Otopalatodigital spectrum disorders: refinement of the phen..:

Moutton, Sébastien ; Fergelot, Patricia ; Naudion, Sophie...
Journal of Human Genetics.  61 (2016)  8 - p. 693-699 , 2016
Link: https://doi.org/10.1038/..
 
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4

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comp..:

Briggs, Tracy A. ; Rice, Gillian I. ; Adib, Navid...
Journal of Clinical Immunology.  36 (2016)  3 - p. 220-234 , 2016
Link: https://doi.org/10.1007/..
 
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5

A study of the clinical and radiological features in a coho..:

Terhal, Paulien A. ; Nievelstein, Rutger Jan A. J. ; Verver, Eva J. J....
American Journal of Medical Genetics Part A.  167 (2015)  3 - p. 461-475 , 2015
Link: https://doi.org/10.1002/..
 
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6

Radiographic features of the skeleton in disorders of post-..:

Rossi, Massimiliano ; Hall, Christine M. ; Bouvier, Raymonde...
Pediatric Radiology.  45 (2015)  7 - p. 965-976 , 2015
Link: https://doi.org/10.1007/..
 
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7

Phenotype–genotype correlations in 17 new patients with an ..:

Nizon, Mathilde ; Andrieux, Joris ; Rooryck, Caroline...
American Journal of Medical Genetics Part A.  167 (2014)  1 - p. 111-122 , 2014
Link: https://doi.org/10.1002/..
 
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8

Fibrous dysplasia and McCune–Albright syndrome: Imaging for..:

Bousson, Valérie ; Rey-Jouvin, Caroline ; Laredo, Jean-Denis...
European Journal of Radiology.  83 (2014)  10 - p. 1828-1842 , 2014
Link: https://doi.org/10.1016/..
 
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9

Dysspondyloenchondromatosis without COL2A1 mutation: Possib..:

Tran Mau‐Them, Frédéric ; Boualam, Aurélia ; Barat‐Houari, Mouna...
American Journal of Medical Genetics Part A.  164 (2013)  3 - p. 769-773 , 2013
Link: https://doi.org/10.1002/..
 
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10

The identification of MAFB mutations in eight patients with..:

Mehawej, Cybel ; Courcet, Jean‐Benoît ; Baujat, Geneviève...
American Journal of Medical Genetics Part A.  161 (2013)  12 - p. 3023-3029 , 2013
Link: https://doi.org/10.1002/..
 
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11

Clinical and Molecular Spectrum of Renal Malformations in K..:

Courcet, Jean-Benoît ; Faivre, Laurence ; Michot, Caroline...
The Journal of Pediatrics.  163 (2013)  3 - p. 742-746 , 2013
Link: https://doi.org/10.1016/..
 
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12

Acro‐osteolysis, keloid like‐lesions, distinctive facial fe..:

Zufferey, Flore ; Hadj‐Rabia, Smaïl ; De Sandre‐Giovannoli, Annachiara...
American Journal of Medical Genetics Part A.  161 (2013)  7 - p. 1786-1791 , 2013
Link: https://doi.org/10.1002/..
 
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13

C5orf42 is the major gene responsible for OFD syndrome type..:

Lopez, Estelle ; Thauvin-Robinet, Christel ; Reversade, Bruno...
Human Genetics.  133 (2013)  3 - p. 367-377 , 2013
Link: https://doi.org/10.1007/..
 
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14

Mucopolysaccharidosis type I and craniosynostosis:

Ziyadeh, Jawad ; Le Merrer, Martine ; Robert, Matthieu...
Acta Neurochirurgica.  155 (2013)  10 - p. 1973-1976 , 2013
Link: https://doi.org/10.1007/..
 
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15

Hypophosphatasia: The Disease in Adults:

Baujat, Geneviève ; Cormier-Daire, Valérie ; Le Merrer, Martine
Clinical Reviews in Bone and Mineral Metabolism.  11 (2013)  2 - p. 78-83 , 2013
Link: https://doi.org/10.1007/..
 
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