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262 results

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Curriculum content and evaluation of resident competency in clinical pathology (laboratory medicine): a proposal.
Smith BR, Wells A, Alexander CB, Bovill E, Campbell S, Dasgupta A, Fung M, Haller B, Howe JG, Parvin C, Peerschke E, Rinder H, Spitalnik S, Weiss R, Wener M; Academy of Clinical Laboratory Physicians and Scientists. Smith BR, et al. Among authors: wener m. Hum Pathol. 2006 Aug;37(8):934-68. doi: 10.1016/j.humpath.2006.01.034. Epub 2006 Jul 3. Hum Pathol. 2006. PMID: 16867855
Curriculum content and evaluation of resident competency in clinical pathology (laboratory medicine): a proposal.
Smith BR, Wells A, Alexander CB, Bovill E, Campbell S, Dasgupta A, Fung M, Haller B, Howe JG, Parvin C, Peerschke E, Rinder H, Spitalnik S, Weiss R, Wener M; Academy of Clinical Laboratory Physicians and Scientists. Smith BR, et al. Among authors: wener m. Am J Clin Pathol. 2006 Jun;125 Suppl:S3-37. doi: 10.1309/4U6X62R0RXBWE9KH. Am J Clin Pathol. 2006. PMID: 16830955 Review.
Use of serum FSH to identify perimenopausal women with pituitary hCG.
Gronowski AM, Fantz CR, Parvin CA, Sokoll LJ, Wiley CL, Wener MH, Grenache DG. Gronowski AM, et al. Among authors: wener mh. Clin Chem. 2008 Apr;54(4):652-6. doi: 10.1373/clinchem.2007.100305. Epub 2008 Feb 7. Clin Chem. 2008. PMID: 18258666
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P; Undiagnosed Diseases Network; Ariani F, Renieri A, Mari F, Wangler MF, Arur S, Jiang YH, Yamamoto S, Shashi V, Bellen HJ. Barish S, et al. Hum Mol Genet. 2022 Aug 25;31(17):2934-2950. doi: 10.1093/hmg/ddac085. Hum Mol Genet. 2022. PMID: 35405010 Free PMC article.
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M; Undiagnosed Diseases Network; Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT. Mao D, et al. Am J Hum Genet. 2020 Apr 2;106(4):570-583. doi: 10.1016/j.ajhg.2020.02.016. Epub 2020 Mar 19. Am J Hum Genet. 2020. PMID: 32197074 Free PMC article.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A; Undiagnosed Diseases Network; Gelb BD, Kurth I, Hempel M, Kutsche K. Schneeberger PE, et al. Brain. 2020 Aug 1;143(8):2437-2453. doi: 10.1093/brain/awaa204. Brain. 2020. PMID: 32761064 Free PMC article.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network; Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Schoch K, et al. Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23. Genet Med. 2021. PMID: 33093671 Free PMC article.
262 results