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

236 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: popp d. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
Genome Sequencing for Diagnosing Rare Diseases.
Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. Wojcik MH, et al. Among authors: popp d. N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761. N Engl J Med. 2024. PMID: 38838312
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Kampmeier A, Leitão E, Parenti I, Beygo J, Depienne C, Bramswig NC, Hsieh TC, Afenjar A, Beck-Wödl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, Haanpää MK, Koillinen H, Heinrich U, Rost I, Jamra RA, Popp D, Koch-Hogrebe M, Rostasy K, López-González V, Sanchez-Soler MJ, Macedo C, Schmetz A, Steinborn C, Weidensee S, Lesmann H, Marbach F, Caro P, Schaaf CP, Krawitz P, Wieczorek D, Kaiser FJ, Kuechler A. Kampmeier A, et al. Among authors: popp d. Front Cell Dev Biol. 2023 Jan 16;10:1020609. doi: 10.3389/fcell.2022.1020609. eCollection 2022. Front Cell Dev Biol. 2023. PMID: 36726590 Free PMC article.
Magnetic Resonance Imaging Findings and Potential Anatomic Risk Factors for Anterolateral Ankle Impingement in Children and Adolescents Suffering from Non-Overload Atraumatic Ankle Pain.
Bäumler W, Straub J, Weber J, Ostheim P, Lenz J, Alt V, Stroszczynski C, Reinhard J, Popp D. Bäumler W, et al. Among authors: popp d. Diagnostics (Basel). 2024 Oct 11;14(20):2265. doi: 10.3390/diagnostics14202265. Diagnostics (Basel). 2024. PMID: 39451588 Free PMC article.
[Transport of severely injured trauma patients in an ambulance with and without a rigid neck orthosis: comparative biomechanical measurements].
Kieninger M, Schneider C, Auer S, Reinker L, Adler I, Dendorfer S, Rosenberger J, Popp D, Eissnert C, Ludsteck D, Cyrus C, Hoffmann J, Morag S, Graf B, Kieninger B. Kieninger M, et al. Among authors: popp d. Anaesthesiologie. 2024 Oct;73(10):668-675. doi: 10.1007/s00101-024-01462-w. Epub 2024 Sep 24. Anaesthesiologie. 2024. PMID: 39317820 Free PMC article. German.
Relationship between GPS-based community mobility data and orthopedic trauma admissions during the COVID-19 pandemic in Austria: a multicenter analysis.
Jeremic N, Widhalm HK, Doering K, Popp D, Stark M, Ower C, Rohit A, Boesenberg R, Leithner A, Nia A. Jeremic N, et al. Among authors: popp d. Wien Klin Wochenschr. 2024 Nov;136(21-22):619-626. doi: 10.1007/s00508-024-02420-7. Epub 2024 Aug 26. Wien Klin Wochenschr. 2024. PMID: 39186135 Free PMC article.
Multidisciplinary Teams in Musculoskeletal Infection - From a Pathologist's Perspective.
Winter L, Mendelsohn DH, Walter N, Popp D, Geis S, Niedermair T, Mamilos A, Gessner A, Salzberger B, Pfister K, Stroszczynski C, Alt V, Rupp M, Brochhausen C. Winter L, et al. Among authors: popp d. Pathol Res Pract. 2024 Oct;262:155539. doi: 10.1016/j.prp.2024.155539. Epub 2024 Aug 12. Pathol Res Pract. 2024. PMID: 39151251 Free article.
236 results