Sökning: "genetic screen"

Visar resultat 1 - 5 av 110 avhandlingar innehållade orden genetic screen.

  1. 1. Couples Considering a Baby? Screen for the Future : Ethical and Implementation Aspects of Preconception Genetic Carrier Screening

    Författare :Amal Matar; Anna T Höglund; Ulrik Kihlbom; Birgitta Esséns; Pär Segerdahl; Ulrika Winblad; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : .... LÄS MER

  2. 2. Genetic pathways controlling CNS development : The role of Notch signaling in regulating daughter cell proliferation in Drosophila

    Författare :Caroline Bivik Stadler; Stefan Thor; Jan-Ingvar Jönsson; Allison Bardin; Linköpings universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : The human central nervous system (CNS) displays the greatest cellular diversity of any organ system, consisting of billions of neurons, of numerous cell sub-types, interconnected in a vast network. Given this enormous complexity, decoding the genetic programs controlling the multistep process of CNS development remains a major challenge. LÄS MER

  3. 3. Genetic studies of neurodevelopmental disorders

    Författare :Josephine Wincent; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    Sammanfattning : Neurodevelopmental disorders (NDDs) constitute a heterogeneous group of disorders that adversely impacts a child’s behavioural and learning processes. Developmental delay (DD) and mental retardation are included among the NDDs and are frequently associated with a wide range of accompanying disabilities such as multiple congenital anomalies and dysmorphic features. LÄS MER

  4. 4. Identification of intrinsic regulators in normal and malignant human hematopoiesis. An RNA-interference approach

    Författare :Roman Galeev; Avdelningen för molekylärmedicin och genterapi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; hematopoietic stem cell; RNA interference; Acute myeloid leukemia; myelodysplastic syndrome; genetic screens; next generation sequencing; genetic regulators;

    Sammanfattning : Bildandet av blodceller, hematopoesen, utgår från ett litet antal av de så kallade hematopoetiska stamceller som sitter i vår benmärg. Dessa celler har förmågan att ge upphov till alla mogna blodcellstyper av de tre hematopoetiska linjerna, samtidigt som de genom celldelning bibehåller sin egna mängd. LÄS MER

  5. 5. Genetic studies of colorectal cancer

    Författare :Johanna Skoglund; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; colorectal cancer; linkage analysis; TGFBR1; case-control study; meta-analysis;

    Sammanfattning : Colorectal cancer is the third most commonly diagnosed cancer worldwide with an incidence rate of over 1 million cases per year. A genetic contribution has been suggested to be involved in around 35% of all colorectal cancer cases. LÄS MER