Genomic deletion within GLDC is a major cause of non‐ketotic hyperglycinaemia

Por Kanno, Junko, Hutchin, Tim, Kamada, Fumiaki, Narisawa, Ayumi, Aoki, Yoko, Matsubara, Yoichi, Kure, Shigeo
Publicado em 2007

Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1

Por Angileri, Francesca, Bergeron, Anne, Morrow, Geneviève, Lettre, Francine, Gray, George, Hutchin, Tim, Ball, Sarah, Tanguay, Robert M.
Publicado no JIMD Rep (2015)

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population

Por Kabahuma, Rosemary I., Ouyang, Xiaomei, Du, Li Lin, Yan, Denise, Hutchin, Tim, Ramsay, Michele, Penn, Claire, Liu, Xue-Zhong
Publicado no Int J Pediatr Otorhinolaryngol (2011)

Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice

Por Pai, Yun Jin, Leung, Kit-Yi, Savery, Dawn, Hutchin, Tim, Prunty, Helen, Heales, Simon, Brosnan, Margaret E., Brosnan, John T., Copp, Andrew J., Greene, Nicholas D.E.
Publicado no Nat Commun (2015)

Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

Por del Castillo, Ignacio, Moreno-Pelayo, Miguel A., del Castillo, Francisco J., Brownstein, Zippora, Marlin, Sandrine, Adina, Quint, Cockburn, David J., Pandya, Arti, Siemering, Kirby R., Chamberlin, G. Parker, Ballana, Ester, Wuyts, Wim, Maciel-Guerra, Andréa Trevas, Álvarez, Araceli, Villamar, Manuela, Shohat, Mordechai, Abeliovich, Dvorah, Dahl, Hans-Henrik M., Estivill, Xavier, Gasparini, Paolo, Hutchin, Tim, Nance, Walter E., Sartorato, Edi L., Smith, Richard J. H., Van Camp, Guy, Avraham, Karen B., Petit, Christine, Moreno, Felipe
Publicado em 2003