Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

23 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation.
Bennett MJ, Weinberger MJ, Kobori JA, Rinaldo P, Burlina AB. Bennett MJ, et al. Among authors: kobori ja. Pediatr Res. 1996 Jan;39(1):185-8. doi: 10.1203/00006450-199601000-00031. Pediatr Res. 1996. PMID: 8825408
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.
Hintz SR, Matern D, Strauss A, Bennett MJ, Hoyme HE, Schelley S, Kobori J, Colby C, Lehman NL, Enns GM. Hintz SR, et al. Mol Genet Metab. 2002 Feb;75(2):120-7. doi: 10.1006/mgme.2001.3282. Mol Genet Metab. 2002. PMID: 11855930
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
Gibson KM, Christensen E, Jakobs C, Fowler B, Clarke MA, Hammersen G, Raab K, Kobori J, Moosa A, Vollmer B, Rossier E, Iafolla AK, Matern D, Brouwer OF, Finkelstein J, Aksu F, Weber HP, Bakkeren JA, Gabreels FJ, Bluestone D, Barron TF, Beauvais P, Rabier D, Santos C, Lehnert W, et al. Gibson KM, et al. Pediatrics. 1997 Apr;99(4):567-74. doi: 10.1542/peds.99.4.567. Pediatrics. 1997. PMID: 9093300
Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study.
Bilder DA, Kobori JA, Cohen-Pfeffer JL, Johnson EM, Jurecki ER, Grant ML. Bilder DA, et al. Among authors: kobori ja. Mol Genet Metab. 2017 May;121(1):1-8. doi: 10.1016/j.ymgme.2017.03.002. Epub 2017 Mar 6. Mol Genet Metab. 2017. PMID: 28285739 Free article.
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, SzczaƂuba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Engle EC, Verheijen FW, Doherty D, Mancini GMS. Dobyns WB, et al. Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. doi: 10.1016/j.ajhg.2018.10.019. Epub 2018 Nov 21. Am J Hum Genet. 2018. PMID: 30471716 Free PMC article.
Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients.
Kaplan FS, Kobori JA, Orellana C, Calvo I, Rosello M, Martinez F, Lopez B, Xu M, Pignolo RJ, Shore EM, Groppe JC. Kaplan FS, et al. Among authors: kobori ja. Am J Med Genet A. 2015 Oct;167A(10):2265-71. doi: 10.1002/ajmg.a.37205. Epub 2015 Jun 11. Am J Med Genet A. 2015. PMID: 26097044 Free PMC article.
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
El-Hattab AW, Li FY, Shen J, Powell BR, Bawle EV, Adams DJ, Wahl E, Kobori JA, Graham B, Scaglia F, Wong LJ. El-Hattab AW, et al. Among authors: kobori ja. Genet Med. 2010 Jan;12(1):19-24. doi: 10.1097/GIM.0b013e3181c5e6f7. Genet Med. 2010. PMID: 20027113
Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.
Hughes-Benzie RM, Pilia G, Xuan JY, Hunter AG, Chen E, Golabi M, Hurst JA, Kobori J, Marymee K, Pagon RA, Punnett HH, Schelley S, Tolmie JL, Wohlferd MM, Grossman T, Schlessinger D, MacKenzie AE. Hughes-Benzie RM, et al. Am J Med Genet. 1996 Dec 11;66(2):227-34. doi: 10.1002/(SICI)1096-8628(19961211)66:2<227::AID-AJMG20>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8958336
Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: a newly recognized overgrowth syndrome?
Adam MP, Kobori JA, Cusmano-Ozog K, Chen KM, Hoyme HE. Adam MP, et al. Among authors: kobori ja. Am J Med Genet A. 2008 Mar 1;146A(5):543-7. doi: 10.1002/ajmg.a.32166. Am J Med Genet A. 2008. PMID: 18241057
Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease.
Banugaria SG, Prater SN, McGann JK, Feldman JD, Tannenbaum JA, Bailey C, Gera R, Conway RL, Viskochil D, Kobori JA, Rosenberg AS, Kishnani PS. Banugaria SG, et al. Among authors: kobori ja. Genet Med. 2013 Feb;15(2):123-31. doi: 10.1038/gim.2012.110. Epub 2012 Oct 11. Genet Med. 2013. PMID: 23060045 Free PMC article.
23 results
Jump to page
Feedback