Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Julien Thevenon"'
Autor:
Joshi Stephen, Alexander G. Bassuk, Hatem El-Shanti, Yasser Al-Sarraj, Christel Thauvin-Robinet, May Christine V. Malicdan, Judith St-Onge, William P. Bone, James C. Mullikin, Ariane Soldatos, Yannis Dufford, Jean Baptiste Rivière, Tawfeg Ben-Omran, Alice Masurel-Paulet, Julien Thevenon, Jamil Al-Alami, Allison Cox, Hala Boulos, Marios Kambouris, William A. Gahl, Corrine Chantegret, Nisc Comparative Sequencing Program, Laurence Faivre
Publikováno v:
Annals of Clinical and Translational Neurology. 4:26-35
Objectives Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the ot
Autor:
Marios, Kambouris, Julien, Thevenon, Ariane, Soldatos, Allison, Cox, Joshi, Stephen, Tawfeg, Ben-Omran, Yasser, Al-Sarraj, Hala, Boulos, William, Bone, James C, Mullikin, Alice, Masurel-Paulet, Judith, St-Onge, Yannis, Dufford, Corrine, Chantegret, Christel, Thauvin-Robinet, Jamil, Al-Alami, Laurence, Faivre, Jean Baptiste, Riviere, William A, Gahl, Alexander G, Bassuk, May Christine V, Malicdan, Hatem, El-Shanti
Publikováno v:
Annals of Clinical and Translational Neurology
Objectives Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the ot