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Patterns of postural asymmetry in infants: a standardized video-based analysis.
Published in:
2006
By:
- Philippi, Heike;
- Faldum, Andreas;
- Jung, Tatjana;
- Bergmann, Holger;
- Bauer, Katharina;
- Gross, Daniela;
- Spranger, Juergen
Publication type:
journal article
Nosology and classification of genetic skeletal disorders: 2010 revision.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 943, doi. 10.1002/ajmg.a.33909
By:
- Warman, Matthew L.;
- Cormier-Daire, Valerie;
- Hall, Christine;
- Krakow, Deborah;
- Lachman, Ralph;
- LeMerrer, Martine;
- Mortier, Geert;
- Mundlos, Stefan;
- Nishimura, Gen;
- Rimoin, David L.;
- Robertson, Stephen;
- Savarirayan, Ravi;
- Sillence, David;
- Spranger, Juergen;
- Unger, Sheila;
- Zabel, Bernhard;
- Superti-Furga, Andrea
Publication type:
Article
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Published in:
Human Mutation, 2012, v. 33, n. 1, p. 144, doi. 10.1002/humu.21611
By:
- Jackson, Gail C.;
- Mittaz-Crettol, Laureane;
- Taylor, Jacqueline A.;
- Mortier, Geert R.;
- Spranger, Juergen;
- Zabel, Bernhard;
- Le Merrer, Martine;
- Cormier-Daire, Valerie;
- Hall, Christine M.;
- Offiah, Amaka;
- Wright, Michael J.;
- Savarirayan, Ravi;
- Nishimura, Gen;
- Ramsden, Simon C.;
- Elles, Rob;
- Bonafe, Luisa;
- Superti-Furga, Andrea;
- Unger, Sheila;
- Zankl, Andreas;
- Briggs, Michael D.
Publication type:
Article

Found: 3

Patterns of postural asymmetry in infants: a standardized video-based analysis.

Nosology and classification of genetic skeletal disorders: 2010 revision.

Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.