Sabina Liechti Gallati


Ontology type: schema:Person     


Person Info

NAME

Sabina

SURNAME

Liechti Gallati

Publications in SciGraph latest 50 shown

  • 2000-01 Buccal cell DNA analysis in premature and term neonates: screening for mutations of the complete coding region for the cystic fibrosis transmembrane conductance regulator in EUROPEAN JOURNAL OF PEDIATRICS
  • 1999-07 Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1999-04 Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother in HUMAN GENETICS
  • 1998-12 Genotype-Phenotype Association in Infants with Cystic Fibrosis at the Time of Diagnosis in PEDIATRIC RESEARCH
  • 1998-07 Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1997-09 Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR in HUMAN GENETICS
  • 1997-07 A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype in HUMAN GENETICS
  • 1996-11 Detection of a new polymorphism in the plasma-membrane Ca2+ ATPase isoform-3 gene and its exclusion as a candidate for X-linked myotubular myopathy (MTM1) in HUMAN GENETICS
  • 1996-09 A New Mutation of the Mitochondrial Genome in a Child With Psychomotor Retardation 76 in PEDIATRIC RESEARCH
  • 1996-02 Identification of four novel splice site mutations in the ornithine transcarbamylase gene in HUMAN GENETICS
  • 1995-04 The age at onset of chronicPseudomonas aeruginosa colonization in cystic fibrosis —prognostic significance in EUROPEAN JOURNAL OF PEDIATRICS
  • 1995-02 Ornithine transcarbamylase deficiency: new sites with increased probability of mutation in HUMAN GENETICS
  • 1993-03 Linkage of Van der Woude syndrome (VWS) to REN and exclusion of the candidate gene TGFB2 from the disease locus in a large pedigree in HUMAN GENETICS
  • 1993-02 Prenatal Diagnosis of X-Linked Centronuclear Myopathy by Linkage Analysis in PEDIATRIC RESEARCH
  • 1992-08 Genotype/Phenotype Association in Cystic Fibrosis: Analyses of the ΔF508, R553X, and 3905insT Mutations in PEDIATRIC RESEARCH
  • 1992-05 Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD) in HUMAN GENETICS
  • 1992-01 Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study in HUMAN GENETICS
  • 1991-12 161 Severe clinical course in cystic fibrosis (CF) patient, compound heterozygous for ΔF508 and haplotype 6 in PEDIATRIC RESEARCH
  • 1991-10 Association between Haplotypes and Specific Mutations in Swiss Cystic Fibrosis Families in PEDIATRIC RESEARCH
  • 1991 The DeltaF508-Deletion in 99 CF Patients of Switzerland in THE IDENTIFICATION OF THE CF (CYSTIC FIBROSIS) GENE
  • 1990-09 151 X-linked centronuclear myopathy: gene localization and prenatal diagnosis in PEDIATRIC RESEARCH
  • 1989-03 Molecular deletion patterns in Duchenne and Becker type muscular dystrophy in HUMAN GENETICS
  • 1987-11 Familial deletion in Becker type muscular dystrophy within the pXJ region in HUMAN GENETICS
  • 1982-07 Letter to the Editor: Abnormal Growth Kinetics and 5′-Nucleotidase Activities in Cultured Skin Fibroblasts from Patients with Duchenne Muscular Dystrophy in PEDIATRIC RESEARCH
  • 1981-11 Abnormal Growth Kinetics and 5′-Nucleotidase Activities in Cultured Skin Fibroblasts from Patients with Duchenne Muscular Dystrophy in PEDIATRIC RESEARCH
  • 1980-10 Distribution of cytoskeletal elements in cultured skin fibroblasts of patients with Duchenne's Muscular Dystrophy in CELLULAR AND MOLECULAR LIFE SCIENCES
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