Sökning: "IDS"

Visar resultat 6 - 10 av 33 avhandlingar innehållade ordet IDS.

1. 6. Molecular investigation of mucopolysaccharidosis type II (Hunter syndrome) in man

   Författare :Stanislav L. Karsten; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mucopolysaccharidosis type II; Hunter syndrome; MPSII; iduronate-2-sulfatase; mutational analysis; homologous nonhomologous recombination; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

   Sammanfattning : Mucopolysaccharidosis type II or Hunter syndrome is a rare lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS). The disorder is inherited in an X-linked recessive fashion and has a broad spectrum of clinical phenotypes ranging from severe to mild. LÄS MER

3. 7. Mother tongue - Phonetic Aspects of Infant-Directed Speech

   Författare :Ulla Sundberg; Anne Fernald; Stockholms universitet; []
   Nyckelord :HUMANIORA; HUMANITIES; infant-directed speech; language acquisition; mother-infant interaction; Phonetics; Fonetik; Phonetics; fonetik;

   Sammanfattning : Phonetic aspects of mother-infant interaction are discussed in light of a functionalist Mother-infant phonetic interaction (MIPhI) model. Adults addressing infants typically use a speech style (infant-directed speech, IDS) characterized by, for instance, extensive suprasegmental (prosodic) modulations. LÄS MER

4. 8. Genomic rearrangements at the cause of three genetic disorders in man

   Författare :Kristina Lagerstedt; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mucopolysaccharidosis type II MPS II ; The Hunter syndrome; Incontinentia pigmenti IP ; Blepharophimosis; ptosis; epicanthus inversus syndrome BPES ; mutational analysis; nonhomologous end joining NHEJ ; homologous recombination HR ; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

   Sammanfattning : Genomic rearrangements are a common cause of genetic disorders in man. This thesis describes the analysis of genomic rearrangements observed in patients with the Hunter syndrome (MPS II), incontinentia pigmenti (IP) and the Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). MPS II is an X-linked recessive lysosomal storage disorder. LÄS MER

5. 9. The dynamics of second language learning : a longitudinal and qualitative study of an adult's learning of Swedish

   Författare :Nils Granberg; Umeå universitet; []
   Nyckelord :HUMANIORA; HUMANITIES; second language learning; second language acquisition; individual differences; attitude; motivation; learning strategies; communication strategies; identity; liminality; case study; Grounded Theory; hermeneutic; qualitative; holistic; longitudinal; Swedish;

   Sammanfattning : An often discussed issue in the field of second language learning is the influence and importance of individual differences, IDs, such as motivation, personality, previous learning experiences and learning strategies. It has been claimed that IDs form a complex system in the learner, but little consensus has been reached as regards definitions of constructs or their relative importance. LÄS MER

7. 10. Participation in everyday activities among children with intellectual disabilities in mainland China : The development, verification, and application of the Picture My Participation instrument

   Författare :Linjun Shi; Karina Huus; Mats Granlund; Yue Zhao; Gunilla Thunberg; Jönköping University; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; China; child; disability; ICF; participation; self-reported;

   Sammanfattning : Background: Participation in everyday activities is seen as a main outcome of rehabilitation for children. ‘Picture My Participation’ (PMP) is a validated questionnaire for assessing participation in everyday activities by children with disabilities in low- and middle-income countries, but it is not yet available in simplified Chinese. LÄS MER