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1,196 results

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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: neumann c. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: neumann c. Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. Am J Hum Genet. 2019. PMID: 30849329 Free PMC article. No abstract available.
Individualized center-based analysis of urinary and sexual functional outcome after radical prostatectomy based on the prostate cancer outcome study: a post hoc pathway to patient outcome measurement analysis for quality improvement.
Duwe G, Boehm K, Becker G, Ruckes C, Sparwasser P, Haack M, Dotzauer R, Thomas A, Mager R, Tsaur I, Neumann CCM, Feick G, Carl G, Brandt MP, Haferkamp A, Höfner T. Duwe G, et al. Among authors: neumann ccm. World J Urol. 2024 Apr 15;42(1):236. doi: 10.1007/s00345-024-04950-1. World J Urol. 2024. PMID: 38619659
Community-based interventions targeting multiple forms of malnutrition among adolescents in low-income and middle-income countries: protocol for a scoping review.
Kurniawan AL, Ranisavljev M, Partap U, Shinde S, Ferrero E, Ostojic S, Mkwanazi N, Alangea DO, Neumann C, Liu S, Bärnighausen T, Fawzi WW; ARISE-NUTRINT collaborators. Kurniawan AL, et al. Among authors: neumann c. BMJ Open. 2024 Mar 28;14(3):e078969. doi: 10.1136/bmjopen-2023-078969. BMJ Open. 2024. PMID: 38548368 Free PMC article.
Cachexia-Affected Survival Based on Inflammatory Parameters Compared to Complex Conventional Nutritional Assessments in Patients with Pancreatic Cancer and Other Gastrointestinal Tumors-The CONKO 020 Investigation.
Meyer-Knees JW, Falkenthal J, Geisel D, Neumann CCM, Hilfenhaus G, Stephan LU, Schöning W, Malinka T, Pratschke J, Stintzing S, Pelzer U. Meyer-Knees JW, et al. Among authors: neumann ccm. Cancers (Basel). 2024 Mar 18;16(6):1194. doi: 10.3390/cancers16061194. Cancers (Basel). 2024. PMID: 38539528 Free PMC article.
Biomarkers Improve Diagnostics of Sepsis in Adult Patients With Suspected Organ Dysfunction Based on the Quick Sepsis-Related Organ Failure Assessment (qSOFA) Score in the Emergency Department.
Bolanaki M, Winning J, Slagman A, Lehmann T, Kiehntopf M, Stacke A, Neumann C, Reinhart K, Möckel M, Bauer M. Bolanaki M, et al. Among authors: neumann c. Crit Care Med. 2024 Feb 7;52(6):887-99. doi: 10.1097/CCM.0000000000006216. Online ahead of print. Crit Care Med. 2024. PMID: 38502804 Free PMC article.
Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the PRF1 Gene.
Stadermann A, Haar M, Riecke A, Mayer T, Neumann C, Bauer A, Schulz A, Nagarathinam K, Gebauer N, Böhm S, Groß M, Grunert M, Müller M, Witte H. Stadermann A, et al. Among authors: neumann c. Int J Mol Sci. 2024 Feb 27;25(5):2762. doi: 10.3390/ijms25052762. Int J Mol Sci. 2024. PMID: 38474010 Free PMC article. Review.
1,196 results