Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

10 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Aluri J, Bach A, Kaviany S, Chiquetto Paracatu L, Kitcharoensakkul M, Walkiewicz MA, Putnam CD, Shinawi M, Saucier N, Rizzi EM, Harmon MT, Keppel MP, Ritter M, Similuk M, Kulm E, Joyce M, de Jesus AA, Goldbach-Mansky R, Lee YS, Cella M, Kendall PL, Dinauer MC, Bednarski JJ, Bemrich-Stolz C, Canna SW, Abraham SM, Demczko MM, Powell J, Jones SM, Scurlock AM, De Ravin SS, Bleesing JJ, Connelly JA, Rao VK, Schuettpelz LG, Cooper MA. Aluri J, et al. Among authors: demczko mm. Blood. 2021 May 6;137(18):2450-2462. doi: 10.1182/blood.2020009620. Blood. 2021. PMID: 33512449 Free PMC article.
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder MA, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA. Williams KB, et al. Among authors: demczko mm. Hum Mol Genet. 2019 Feb 15;28(4):525-538. doi: 10.1093/hmg/ddy344. Hum Mol Genet. 2019. PMID: 30304524 Free PMC article.
Newborn Pulse Oximetry for Infants Born Out-of-Hospital.
Williams KB, Horst M, Hollinger EA, Freedman J, Demczko MM, Chowdhury D. Williams KB, et al. Among authors: demczko mm. Pediatrics. 2021 Oct;148(4):e2020048785. doi: 10.1542/peds.2020-048785. Epub 2021 Sep 16. Pediatrics. 2021. PMID: 34531289
A Wave.
Demczko MM. Demczko MM. JAMA. 2019 Sep 3;322(9):815-816. doi: 10.1001/jama.2019.12599. JAMA. 2019. PMID: 31479141 No abstract available.
Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers.
Wongkittichote P, Pantano C, Bogush E, Alves CAP, Hong X, He M, Demczko MM, Ganetzky RD, Goldstein A. Wongkittichote P, et al. Among authors: demczko mm. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107710. doi: 10.1016/j.ymgme.2023.107710. Epub 2023 Oct 20. Mol Genet Metab. 2023. PMID: 37903659