Simon KL - Search Results

1

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

Ferreira CR, Chen D, Abraham SM, Adams DR, Simon KL, Malicdan MC, Markello TC, Gunay-Aygun M, Gahl WA. Ferreira CR, et al. Among authors: simon kl. Mol Genet Metab. 2017 Mar;120(3):288-294. doi: 10.1016/j.ymgme.2016.12.006. Epub 2016 Dec 18. Mol Genet Metab. 2017. PMID: 28041820 Free PMC article.

2

Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.

O'Brien KJ, Lozier J, Cullinane AR, Osorio B, Nghiem K, Speransky V, Zein WM, Mullikin JC, Neff AT, Simon KL, Malicdan MC, Gahl WA, Young LR, Gochuico BR. O'Brien KJ, et al. Among authors: simon kl. Mol Genet Metab. 2016 Nov;119(3):284-287. doi: 10.1016/j.ymgme.2016.08.009. Epub 2016 Sep 3. Mol Genet Metab. 2016. PMID: 27641950 Free PMC article.

3

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Bryan MM, Tolman NJ, Simon KL, Huizing M, Hufnagel RB, Brooks BP, Speransky V, Mullikin JC, Gahl WA, Malicdan MCV, Gochuico BR. Bryan MM, et al. Among authors: simon kl. Mol Genet Metab. 2017 Apr;120(4):378-383. doi: 10.1016/j.ymgme.2017.02.007. Epub 2017 Feb 27. Mol Genet Metab. 2017. PMID: 28259707 Free PMC article.

4

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC; NISC Comparative Sequencing Program; Gahl WA, Huizing M, Smith ACM. Berger SI, et al. Among authors: simon kl. Hum Genet. 2017 Apr;136(4):409-420. doi: 10.1007/s00439-017-1767-x. Epub 2017 Feb 17. Hum Genet. 2017. PMID: 28213671 Free PMC article.

5

Molecular and phenotypic abnormalities of B lymphocytes in patients with Wiskott-Aldrich syndrome.

Simon KL, Anderson SM, Garabedian EK, Moratto D, Sokolic RA, Candotti F. Simon KL, et al. J Allergy Clin Immunol. 2014 Mar;133(3):896-9.e4. doi: 10.1016/j.jaci.2013.08.050. Epub 2013 Nov 8. J Allergy Clin Immunol. 2014. PMID: 24210885 Free PMC article. No abstract available.

6

Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress.

Rissone A, Weinacht KG, la Marca G, Bishop K, Giocaliere E, Jagadeesh J, Felgentreff K, Dobbs K, Al-Herz W, Jones M, Chandrasekharappa S, Kirby M, Wincovitch S, Simon KL, Itan Y, DeVine A, Schlaeger T, Schambach A, Sood R, Notarangelo LD, Candotti F. Rissone A, et al. Among authors: simon kl. J Exp Med. 2015 Jul 27;212(8):1185-202. doi: 10.1084/jem.20141286. Epub 2015 Jul 6. J Exp Med. 2015. PMID: 26150473 Free PMC article.

7

Age-Dependent Defects of Regulatory B Cells in Wiskott-Aldrich Syndrome Gene Knockout Mice.

Yokoyama T, Yoshizaki A, Simon KL, Kirby MR, Anderson SM, Candotti F. Yokoyama T, et al. Among authors: simon kl. PLoS One. 2015 Oct 8;10(10):e0139729. doi: 10.1371/journal.pone.0139729. eCollection 2015. PLoS One. 2015. PMID: 26448644 Free PMC article.

8

Use of doxorubicin chemotherapy following debulking surgery in the treatment of a cat with mesenteric hemangiosarcoma.

Simon KL, Cook MR, Husbands BD, Long ME, Hokamp JA, Helms TH, Shive HR, Lumbrezer Johnson S, Hostnik E, Selmic LE. Simon KL, et al. JFMS Open Rep. 2022 Sep 15;8(2):20551169221121900. doi: 10.1177/20551169221121900. eCollection 2022 Jul-Dec. JFMS Open Rep. 2022. PMID: 36132423 Free PMC article.

9

Novel and legacy per- and polyfluoroalkyl substances in bald eagle eggs from the Great Lakes region.

Wu Y, Simon KL, Best DA, Bowerman W, Venier M. Wu Y, et al. Among authors: simon kl. Environ Pollut. 2020 May;260:113811. doi: 10.1016/j.envpol.2019.113811. Epub 2019 Dec 18. Environ Pollut. 2020. PMID: 32369891

10

What Is Your Neurologic Diagnosis?

Rich JJ, Simon KL, Spangler EA, Shores A. Rich JJ, et al. Among authors: simon kl. J Am Vet Med Assoc. 2018 Jun 15;252(12):1467-1470. doi: 10.2460/javma.252.12.1467. J Am Vet Med Assoc. 2018. PMID: 29889633 Free article. No abstract available.

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

14 results

Search Page

Filters