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eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.
Bosio M, Drechsel O, Rahman R, Muyas F, Rabionet R, Bezdan D, Domenech Salgado L, Hor H, Schott JJ, Munell F, Colobran R, Macaya A, Estivill X, Ossowski S. Bosio M, et al. Among authors: rahman r. Hum Mutat. 2019 Jul;40(7):865-878. doi: 10.1002/humu.23772. Epub 2019 May 21. Hum Mutat. 2019. PMID: 31026367 Free PMC article.
A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.
Bahamonde MI, Serra SA, Drechsel O, Rahman R, Marcé-Grau A, Prieto M, Ossowski S, Macaya A, Fernández-Fernández JM. Bahamonde MI, et al. Among authors: rahman r. PLoS One. 2015 Dec 30;10(12):e0146035. doi: 10.1371/journal.pone.0146035. eCollection 2015. PLoS One. 2015. PMID: 26716990 Free PMC article.
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Fokkema IFAC, van der Velde KJ, Slofstra MK, Ruivenkamp CAL, Vogel MJ, Pfundt R, Blok MJ, Lekanne Deprez RH, Waisfisz Q, Abbott KM, Sinke RJ, Rahman R, Nijman IJ, de Koning B, Thijs G, Wieskamp N, Moritz RJG, Charbon B, Saris JJ, den Dunnen JT, Laros JFJ, Swertz MA, van Gijn ME. Fokkema IFAC, et al. Among authors: rahman r. Hum Mutat. 2019 Dec;40(12):2230-2238. doi: 10.1002/humu.23896. Epub 2019 Sep 3. Hum Mutat. 2019. PMID: 31433103 Free PMC article.
Characteristics and outcomes of COVID-19 patients admitted to hospital with and without respiratory symptoms.
Citarella BW, Kartsonaki C, Ibáñez-Prada ED, Gonçalves BP, Baruch J, Escher M, Pritchard MG, Wei J, Philippy F, Dagens A, Hall M, Lee J, Kutsogiannis DJ, Wils EJ, Fernandes MA, Tirupakuzhi Vijayaraghavan BK, Panda PK, Martin-Loeches I, Ohshimo S, Fatoni AZ, Horby P, Dunning J, Rello J, Merson L, Rojek A, Vaillant M, Olliaro P, Reyes LF; ISARIC Clinical Characterisation Group. Citarella BW, et al. Heliyon. 2024 May 4;10(10):e29591. doi: 10.1016/j.heliyon.2024.e29591. eCollection 2024 May 30. Heliyon. 2024. PMID: 38779000 Free PMC article.
Bounds to electron spin qubit variability for scalable CMOS architectures.
Cifuentes JD, Tanttu T, Gilbert W, Huang JY, Vahapoglu E, Leon RCC, Serrano S, Otter D, Dunmore D, Mai PY, Schlattner F, Feng M, Itoh K, Abrosimov N, Pohl HJ, Thewalt M, Laucht A, Yang CH, Escott CC, Lim WH, Hudson FE, Rahman R, Dzurak AS, Saraiva A. Cifuentes JD, et al. Among authors: rahman r. Nat Commun. 2024 May 20;15(1):4299. doi: 10.1038/s41467-024-48557-x. Nat Commun. 2024. PMID: 38769086 Free PMC article.
Epidemiological Burden of Neurotrauma in Nigeria: A Systematic Review and Pooled Analysis of 45,763 Patients.
Ukachukwu AK, Nischal SA, Trillo-Ordonez Y, Nwaribe EE, Abu-Bonsrah N, Malomo TA, Oyemolade TA, Badejo OA, Deng DD, Still MEH, Oboh EC, Okere OE, Asemota I, Oboh EN, Ogundeji OD, Ugorji C, Rahman R, Reddy P, Seas A, Waguia-Kouam R, von Isenburg M, Fuller AT, Haglund MM, Adeleye AO. Ukachukwu AK, et al. Among authors: rahman r. World Neurosurg. 2024 May;185:e99-e142. doi: 10.1016/j.wneu.2023.11.070. World Neurosurg. 2024. PMID: 38741332
The Epidemiological Burden of Neurovascular Pathology in Nigeria: A Systematic Review and Pooled Patient-Level Analysis.
Nischal SA, Badejo OA, Trillo-Ordonez Y, Oyemolade TA, Seas A, Malomo TA, Nwaribe EE, Abu-Bonsrah N, Deng DD, Okere OE, Ogundeji OD, Oboh E, Still MEH, Waguia-Kouam R, Asemota I, Oboh EN, Reddy P, Ugorji C, Rahman R, von Isenburg M, Fuller AT, Haglund MM, Adeleye AO, Ukachukwu AK. Nischal SA, et al. Among authors: rahman r. World Neurosurg. 2024 May;185:e243-e263. doi: 10.1016/j.wneu.2023.12.013. World Neurosurg. 2024. PMID: 38741327
1,306 results