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Sabina Liechti-Gallati

Boston Children's Hospital

29

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1061

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Haplotype analysis for CF-linked DNA polymorphisms in Switzerland

2008 Clinical Genetics
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Citations (1)
Cystic fibrosis mutations and immotile cilia syndrome

2008 Clinical Genetics
- Sabina Liechti-Gallati
- Richard Kraemer
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Citations (5)
MTM1 mutations in X-linked myotubular myopathy

2000 Human Mutation
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Citations (189)
Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother.

1999 Human Genetics
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Citations (53)
Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients

1999 Neuromuscular Disorders
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Citations (35)
Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene

1998 Human Mutation
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Citations (30)
Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.

1998 European Journal of Human Genetics
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Citations (22)
Genotype-phenotype association in infants with cystic fibrosis at the time of diagnosis.

1998 Pediatric Research
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Citations (31)
Screening of the FcεRI-β-Gene in a Swiss Population of Asthmatic Children: No Association with E237G and Identification of New Sequence Variations

1998 Disease Markers
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Citations (18)
Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy

1997 Human Molecular Genetics
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Citations (102)