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American Journal of Human Genetics|January 22, 2005
Functional consequences of PRODH missense mutationsHans-Ulrich Bender, Shlomo Almashanu, Gary Steel, et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology|July 5, 2015
Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome)Thomas J Gniadek, Nicole Singer, Norman J Barker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2015
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian GenomicsJulie Jurgens, Hua Ling, Kurt Hetrick, et al.
JIMD Reports|May 8, 2023
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortemRaeLynn Forsyth, Ryan H Peretz, Angela Dempsey, et al.
Molecular and Cellular Biology|November 6, 2002
PEX11alpha is required for peroxisome proliferation in response to 4-phenylbutyrate but is dispensable for peroxisome proliferator-activated receptor alpha-mediated peroxisome proliferationXiaoling Li, Eveline Baumgart, Gao-Xiang Dong, et al.
European Journal of Pediatrics|November 2, 2004
Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and prolineMatthias R Baumgartner, Daniel Rabier, Marie-Cécile Nassogne, et al.
Human Mutation|February 16, 2022
The impact of GeneMatcher on international data sharing and collaborationAda Hamosh, Elizabeth Wohler, Renan Martin, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
miRNA mutations are not a common cause of deafnessMichael S Hildebrand, P Dane Witmer, Shunbin Xu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2007
Stage II follow-up on a linkage scan for bipolar disorder in the Ashkenazim provides suggestive evidence for chromosome 12p and the GRIN2B geneDimitrios Avramopoulos, Virginia K Lasseter, M Daniele Fallin, et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society|July 20, 2004
Rapid analysis of mitochondrial DNA depletion by fluorescence in situ hybridization and immunocytochemistry: potential strategies for HIV therapeutic monitoringMichael S Janes, Bonnie J Hanson, Dani M Hill, et al.
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