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1 - 8 of 8 results found for ISPD. Did you mean: isd

  1. A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous...

    http://iris.ucl.ac.uk/iris/publication/1620416/3

  2. A new homozygous ISPD mutation is associated with either early limb-girdle or congenital...

    http://iris.ucl.ac.uk/iris/publication/1620515/3

  3. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause...

    http://iris.ucl.ac.uk/iris/publication/407701/3

  4. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

    http://iris.ucl.ac.uk/iris/publication/843979/3

  5. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause...

    Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy that is accompanied by a variety of brain and eye malformations. It represents the most severe clinical phenotype in a spectrum of diseases associated with abnormal

    http://iris.ucl.ac.uk/iris/publication/407701/2

  6. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.

    Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker-Warburg syndrome, to mild forms of adult-onset limb-girdle muscular

    http://iris.ucl.ac.uk/iris/publication/843979/2

  7. A Study to Assess Global Availability of Fetal Surgery for Myelomeningocele.

    AIM: To establish the provision of fetal surgery for myelomeningocele (MMC) worldwide. METHODS: Through the International Society for Prenatal Diagnosis (ISPD) Fetal Therapy Special Interest Group and the North American Fetal Therapy Network (NAFTNet

    http://iris.ucl.ac.uk/iris/publication/1599267/1

  8. Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of...

    Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions; some fatal in the first few years of life and with central nervous system involvement, whereas others present a milder course. We provide a comprehensive

    http://iris.ucl.ac.uk/iris/publication/1385204/1

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