Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Kate B. Clarkson"'
Autor:
Anand Srivastava, Greg F. Guzauskas, Mary L. Gregory, Kenton R. Holden, Kate B. Clarkson, Terence S. Edgar
Publikováno v:
Journal of Child Neurology. 23:1433-1438
Hyperekplexia (MIM #149400) is a rare neurological disorder characterized by an exaggerated startle response, infantile hypertonia and hyperreflexia without spasticity, a hesitant gait that usually improves by 3 years of age, and nocturnal myoclonus.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf2a49ae5078ae0b3ee98ac5e1ae8d79
https://doi.org/10.1177/0883073808320754
https://doi.org/10.1177/0883073808320754
Autor:
Frank O. Bartel, Dennis E. Bulman, Kym M. Boycott, Christine M. Armour, Charles E. Schwartz, David B. Everman, Olga Jarinova, Alka Dwivedi, Barbara R. DuPont, Kate B Clarkson, Laura M McDonell, Gail E. Graham, Richard Curtis Rogers
Publikováno v:
European journal of human genetics : EJHG. 19(11)
Split-hand/foot malformation with long-bone deficiency (SHFLD) is a relatively rare autosomal-dominant skeletal disorder, characterized by variable expressivity and incomplete penetrance. Although several chromosomal loci for SHFLD have been identifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::727749b266c6fe35840a2215fea89d6e
https://pubmed.ncbi.nlm.nih.gov/21629300
https://pubmed.ncbi.nlm.nih.gov/21629300