Huijmans J - Search Results

1

Premature aging in mice deficient in DNA repair and transcription.

de Boer J, Andressoo JO, de Wit J, Huijmans J, Beems RB, van Steeg H, Weeda G, van der Horst GT, van Leeuwen W, Themmen AP, Meradji M, Hoeijmakers JH. de Boer J, et al. Among authors: huijmans j. Science. 2002 May 17;296(5571):1276-9. doi: 10.1126/science.1070174. Epub 2002 Apr 11. Science. 2002. PMID: 11950998

2

Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.

Andressoo JO, Jans J, de Wit J, Coin F, Hoogstraten D, van de Ven M, Toussaint W, Huijmans J, Thio HB, van Leeuwen WJ, de Boer J, Egly JM, Hoeijmakers JH, van der Horst GT, Mitchell JR. Andressoo JO, et al. Among authors: huijmans j. PLoS Biol. 2006 Oct;4(10):e322. doi: 10.1371/journal.pbio.0040322. PLoS Biol. 2006. PMID: 17020410 Free PMC article.

3

Morquio B syndrome: a primary defect in beta-galactosidase.

van der Horst GT, Kleijer WJ, Hoogeveen AT, Huijmans JG, Blom W, van Diggelen OP. van der Horst GT, et al. Among authors: huijmans jg. Am J Med Genet. 1983 Oct;16(2):261-75. doi: 10.1002/ajmg.1320160215. Am J Med Genet. 1983. PMID: 6418007

4

Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome.

van den Ouweland JM, de Klerk JB, van de Corput MP, Dirks RW, Raap AK, Scholte HR, Huijmans JG, Hart LM, Bruining GJ, Maassen JA. van den Ouweland JM, et al. Among authors: huijmans jg. Eur J Hum Genet. 2000 Mar;8(3):195-203. doi: 10.1038/sj.ejhg.5200444. Eur J Hum Genet. 2000. PMID: 10780785

5

Amino acid administration to premature infants directly after birth.

te Braake FW, van den Akker CH, Wattimena DJ, Huijmans JG, van Goudoever JB. te Braake FW, et al. Among authors: huijmans jg. J Pediatr. 2005 Oct;147(4):457-61. doi: 10.1016/j.jpeds.2005.05.038. J Pediatr. 2005. PMID: 16227030 Clinical Trial.

6

Amino acid solutions for premature neonates during the first week of life: the role of N-acetyl-L-cysteine and N-acetyl-L-tyrosine.

Van Goudoever JB, Sulkers EJ, Timmerman M, Huijmans JG, Langer K, Carnielli VP, Sauer PJ. Van Goudoever JB, et al. Among authors: huijmans jg. JPEN J Parenter Enteral Nutr. 1994 Sep-Oct;18(5):404-8. doi: 10.1177/0148607194018005404. JPEN J Parenter Enteral Nutr. 1994. PMID: 7815670 Clinical Trial.

7

L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship.

de Klerk JB, Huijmans JG, Stroink H, Robben SG, Jakobs C, Duran M. de Klerk JB, et al. Among authors: huijmans jg. Neuropediatrics. 1997 Dec;28(6):314-7. doi: 10.1055/s-2007-973722. Neuropediatrics. 1997. PMID: 9453028

8

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS. Mancini GM, et al. Among authors: huijmans jg. Am J Med Genet A. 2005 Jan 30;132A(3):288-95. doi: 10.1002/ajmg.a.30473. Am J Med Genet A. 2005. PMID: 15690373

9

Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.

Kleijer WJ, Garritsen VH, van der Sterre ML, Berning C, Häberle J, Huijmans JG. Kleijer WJ, et al. Among authors: huijmans jg. Prenat Diagn. 2006 Mar;26(3):242-7. doi: 10.1002/pd.1390. Prenat Diagn. 2006. PMID: 16475226

10

beta-Glucuronidase deficiency as a cause of fetal hydrops.

Kagie MJ, Kleijer WJ, Huijmans JG, Maaswinkel-Mooy P, Kanhai HH. Kagie MJ, et al. Among authors: huijmans jg. Am J Med Genet. 1992 Mar 1;42(5):693-5. doi: 10.1002/ajmg.1320420513. Am J Med Genet. 1992. PMID: 1632440

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

79 results

Search Page