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Items: 1 to 20 of 638

1.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV.

Am J Hum Genet. 2019 Sep 5;105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017. No abstract available.

2.

The Itinerant 2D Electron Gas of the Indium Oxide (111) Surface: Implications for Carbon- and Energy-Conversion Applications.

Jovic V, Moser S, Papadogianni A, Koch RJ, Rossi A, Jozwiak C, Bostwick A, Rotenberg E, Kennedy JV, Bierwagen O, Smith KE.

Small. 2019 Sep 5:e1903321. doi: 10.1002/smll.201903321. [Epub ahead of print]

PMID:
31489781
3.

β-Arylethynyl substituted silver corrole complexes.

Stefanelli M, Ricci A, Chiarini M, Lo Sterzo C, Berionni Berna B, Pomarico G, Sabuzi F, Galloni P, Fronczek FR, Smith KM, Wang L, Ou Z, Kadish KM, Paolesse R.

Dalton Trans. 2019 Sep 3. doi: 10.1039/c9dt03166a. [Epub ahead of print]

PMID:
31478049
4.

Quantitative Analysis of Glycine Oligomerization by Ion-Pair Chromatography.

Campbell TD, Febrian R, Kleinschmidt HE, Smith KA, Bracher PJ.

ACS Omega. 2019 Jul 26;4(7):12745-12752. doi: 10.1021/acsomega.9b01492. eCollection 2019 Jul 31.

5.

Esterification over Acid-Treated Mesoporous Carbon Derived from Petroleum Coke.

Liu S, Wang H, Neumann P, Kim CS, Smith KJ.

ACS Omega. 2019 Mar 29;4(3):6050-6058. doi: 10.1021/acsomega.8b03472. eCollection 2019 Mar 31.

6.

The Genome Empowerment Scale (GEmS): An Assessment of Parental Empowerment in Families with Undiagnosed Disease.

McConkie-Rosell A, Schoch K, Sullivan J, Cope H, Spillmann R, Palmer CGS, Pena L, Jiang YH, Daniels N, Walley N, Tan KG; Undiagnosed Diseases Network, Hooper SR, Shashi V.

Clin Genet. 2019 Aug 25. doi: 10.1111/cge.13635. [Epub ahead of print]

PMID:
31448412
7.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J, Jolly LA.

Biol Psychiatry. 2019 Jun 29. pii: S0006-3223(19)31479-9. doi: 10.1016/j.biopsych.2019.05.028. [Epub ahead of print]

PMID:
31443933
8.

Genomics in medicine: a novel elective rotation for internal medicine residents.

Geng LN, Kohler JN, Levonian P; Members of the Undiagnosed Diseases Network, Bernstein JA, Ford JM, Ahuja N, Witteles R, Hom J, Wheeler M.

Postgrad Med J. 2019 Aug 22. pii: postgradmedj-2018-136355. doi: 10.1136/postgradmedj-2018-136355. [Epub ahead of print]

PMID:
31439813
9.

Bloody Bronchial Cast - Aftermath of Hemoptysis.

Annangi S, Smith KH.

Am J Respir Crit Care Med. 2019 Aug 21. doi: 10.1164/rccm.201906-1277IM. [Epub ahead of print] No abstract available.

PMID:
31433950
10.

Synthesis and Investigation of Linker-Free BODIPY-Gly Conjugates Substituted at the Boron Atom.

Wang M, Zhang G, Bobadova-Parvanova P, Merriweather AN, Odom L, Barbosa D, Fronczek FR, Smith KM, Vicente MGH.

Inorg Chem. 2019 Sep 3;58(17):11614-11621. doi: 10.1021/acs.inorgchem.9b01474. Epub 2019 Aug 20.

PMID:
31430148
11.

Elucidating Energy Pathways through Simultaneous Measurement of Absorption and Transmission in a Coupled Plasmonic-Photonic Cavity.

Pan F, Smith KC, Nguyen HL, Knapper KA, Masiello DJ, Goldsmith RH.

Nano Lett. 2019 Aug 26. doi: 10.1021/acs.nanolett.9b02796. [Epub ahead of print]

PMID:
31424952
12.

The Northern Route for Human dispersal in Central and Northeast Asia: New evidence from the site of Tolbor-16, Mongolia.

Zwyns N, Paine CH, Tsedendorj B, Talamo S, Fitzsimmons KE, Gantumur A, Guunii L, Davakhuu O, Flas D, Dogandžić T, Doerschner N, Welker F, Gillam JC, Noyer JB, Bakhtiary RS, Allshouse AF, Smith KN, Khatsenovich AM, Rybin EP, Byambaa G, Hublin JJ.

Sci Rep. 2019 Aug 13;9(1):11759. doi: 10.1038/s41598-019-47972-1.

13.

Making Evidence Actionable: Interactive Dashboards, Bayes, and Health Care Innovation.

Bir A, Freeman N, Chew R, Smith K, Derzon J, Day T.

EGEMS (Wash DC). 2019 Aug 5;7(1):40. doi: 10.5334/egems.300.

14.

Nanophosphor-Based Contrast Agents for Spectral X-ray Imaging.

Smith K, Getzin M, Garfield JJ, Suvarnapathaki S, Camci-Unal G, Wang G, Gkikas M.

Nanomaterials (Basel). 2019 Jul 30;9(8). pii: E1092. doi: 10.3390/nano9081092.

15.

Multi-trait Improvement by Predicting Genetic Correlations in Breeding Crosses.

Neyhart JL, Lorenz AJ, Smith KP.

G3 (Bethesda). 2019 Jul 29. pii: g3.400406.2019. doi: 10.1534/g3.119.400406. [Epub ahead of print]

16.

Development of a Multi-parent Population for Genetic Mapping and Allele Discovery in Six-Row Barley.

Ollhoff A, Poets AM, Tyagi P, Lei L, Carter CK, Hirsch CN, Li L, Brown-Guedira G, Morrell PL, Muehlbauer GJ, Smith KP.

Genetics. 2019 Jul 29. pii: genetics.302046.2019. doi: 10.1534/genetics.119.302046. [Epub ahead of print]

17.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV.

Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18. Erratum in: Am J Hum Genet. 2019 Sep 5;105(3):672-674.

PMID:
31327508
18.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Bhatia A, Mobley BC, Cogan J, Koziura ME, Brokamp E, Phillips J, Newman J; Undiagnosed Diseases Network (UDN), Moore SA, Hamid R; Members of the Undiagnosed Diseases Network.

Clin Imaging. 2019 Jun 21;58:108-113. doi: 10.1016/j.clinimag.2019.06.010. [Epub ahead of print]

PMID:
31299614
19.

Early results of displaced femoral neck fragility fractures treated with supercapsular percutaneous-assisted total hip arthroplasty.

Mitchell RJ, Kay AB, Smith KM, Murphy SB, Le DT.

Arthroplast Today. 2019 Mar 16;5(2):193-196. doi: 10.1016/j.artd.2019.02.003. eCollection 2019 Jun.

20.

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.

Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P; Undiagnosed Diseases Network, Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A.

Hum Mutat. 2019 Aug;40(8):1115-1126. doi: 10.1002/humu.23760. Epub 2019 May 5.

PMID:
31264822

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