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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

131 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: meagher k. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026 Free PMC article.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM, Adam S, du Souich C, Lehman A, Nelson TN, van Karnebeek C, Alderman E, Armstrong L, Aubertin G, Blood K, Boelman C, Boerkoel C, Bretherick K, Brown L, Chijiwa C, Clarke L, Couse M, Creighton S, Watts-Dickens A, Gibson WT, Gill H, Tarailo-Graovac M, Hamilton S, Heran H, Horvath G, Huang L, Hulait GK, Koehn D, Lee HK, Lewis S, Lopez E, Louie K, Niederhoffer K, Matthews A, Meagher K, Peng JJ, Patel MS, Race S, Richmond P, Rupps R, Salvarinova R, Seath K, Selby K, Steinraths M, Stockler S, Tang K, Tyson C, van Allen M, Wasserman W, Mwenifumbo J, Friedman JM. Elliott AM, et al. Among authors: meagher k. HGG Adv. 2022 Apr 18;3(3):100108. doi: 10.1016/j.xhgg.2022.100108. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35599849 Free PMC article.
Observation of Seven Astrophysical Tau Neutrino Candidates with IceCube.
Abbasi R, Ackermann M, Adams J, Agarwalla SK, Aguilar JA, Ahlers M, Alameddine JM, Amin NM, Andeen K, Anton G, Argüelles C, Ashida Y, Athanasiadou S, Axani SN, Bai X, Balagopal VA, Baricevic M, Barwick SW, Basu V, Bay R, Beatty JJ, Becker Tjus J, Beise J, Bellenghi C, Benning C, BenZvi S, Berley D, Bernardini E, Besson DZ, Blaufuss E, Blot S, Bontempo F, Book JY, Boscolo Meneguolo C, Böser S, Botner O, Böttcher J, Bourbeau E, Braun J, Brinson B, Brostean-Kaiser J, Burley RT, Busse RS, Butterfield D, Campana MA, Carloni K, Carnie-Bronca EG, Chattopadhyay S, Chau N, Chen C, Chen Z, Chirkin D, Choi S, Clark BA, Classen L, Coleman A, Collin GH, Connolly A, Conrad JM, Coppin P, Correa P, Cowen DF, Dave P, De Clercq C, DeLaunay JJ, Delgado D, Deng S, Deoskar K, Desai A, Desiati P, de Vries KD, de Wasseige G, DeYoung T, Diaz A, Díaz-Vélez JC, Dittmer M, Domi A, Dujmovic H, DuVernois MA, Ehrhardt T, Eller P, Ellinger E, El Mentawi S, Elsässer D, Engel R, Erpenbeck H, Evans J, Evenson PA, Fan KL, Fang K, Farrag K, Fazely AR, Feigl N, Fiedlschuster S, Fienberg AT, Finley C, Fischer L, Fox D, Franckowiak A, Fritz A, Fürst P, Gallagher J, Ganster E, Garcia A, Gerhardt L, Ghadimi A, Glaser C, … See abstract for full author list ➔ Abbasi R, et al. Among authors: meagher k. Phys Rev Lett. 2024 Apr 12;132(15):151001. doi: 10.1103/PhysRevLett.132.151001. Phys Rev Lett. 2024. PMID: 38682982
A Simple and Cost-Effective Technique to Monitor the Sublimation Flow During Primary Drying of Freeze-Drying Using Shelf Inlet/Outlet Temperature Difference or Chamber to Condenser Pressure Drop.
Authelin JR, Koumurian B, Meagher K, Walsh E, Clavreul T, Rellis B, Gerbeau L, Nakach M, Peral F. Authelin JR, et al. Among authors: meagher k. J Pharm Sci. 2024 Jul;113(7):1898-1906. doi: 10.1016/j.xphs.2024.02.015. Epub 2024 Feb 17. J Pharm Sci. 2024. PMID: 38369018
131 results