Results 31 to 39 of about 40 (39)

Mutations in POMT1 are found in a minority of patients with Walker–Warburg syndrome

American Journal of Medical Genetics, Part A, 2005
William B. Dobyns, Christine K Lee, Bernard S Chang   +2 more
exaly  

Walker-Warburg Syndrome

Neuropediatrics, 1990
Enrico Parano
exaly  

Detection of an insertion in the gene from three French Walker Warburg syndrome families

Molecular Genetics and Metabolism, 2007
Nathalie Seta, M Gonzales, A Laquerriere
exaly  

Congenital unilateral buphthalmos in Walker-Warburg syndrome: A clinicopathological study

Eye, 1999
Shimon Rumelt, Uri Rehany, S Rumelt
exaly  

Mutations of the gene found in patients with Walker–Warburg syndrome lead to a defect of protein O-mannosylation

Biochemical and Biophysical Research Communications, 2004
Tamao Endo, Hiroshi Manya
exaly  

Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker–Warburg syndrome

Clinical Genetics, 2008
M L Martinez-Frías, A Pena, J Cruces
exaly  

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation†

Human Mutation, 2006
Han G. Brunner, Enrico Bertini, Jeroen van Reeuwijk   +2 more
exaly  

Anaesthesia for a child with Walker–Warburg syndrome

Paediatric Anaesthesia, 2003
exaly  

Congenital Polyneuropathy in Walker-Warburg Syndrome

Neuropediatrics, 1992
exaly