Found: 5
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Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1573, doi. 10.1002/ajmg.a.37609
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- Article
Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2391, doi. 10.1002/ajmg.a.36647
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- Article
Classic phenotype of Coffin-lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 516, doi. 10.1002/ajmg.a.36299
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- Publication type:
- Article
Novel mutation in TP 63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1432, doi. 10.1002/ajmg.a.35885
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- Article
A Case of Progressive Quadriceps Weakness and Elevated Creatine Kinase Level Mimicking Inclusion Body Myositis.
- Published in:
- Arthritis Care & Research, 2014, v. 66, n. 2, p. 328, doi. 10.1002/acr.22156
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- Article