COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report.

Autor: Dirani M; School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador., Cuenca VD; School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador., Romero VI; School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.

Publikováno v: Frontiers in surgery [Front Surg] 2022 Sep 15; Vol. 9, pp. 986372. Date of Electronic Publication: 2022 Sep 15 (Print Publication: 2022).

Understanding Seizures and Prognosis of the Extreme Delta Brush Pattern in Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis: A Systematic Review.

Autor: Parwani J; Neurology, Lokmanya Tilak Municipal Medical College, Mumbai, IND., Ortiz JF; Neurology, Universidad San Francisco de Quito, Quito, ECU.; Neurology, Larkin Community Hospital, Miami, USA., Alli A; Medicine, Tishreen University Faculty of Medicine, Lattakia, SYR.; Internal Medicine, Universitat de Barcelona, Barcelona, ESP., Lalwani A; Internal Medicine, KJ Somaiya Medical College, Mumbai, IND., Ruxmohan S; Neurology, Larkin Community Hospital, Miami, USA., Tamton H; Neurology, Larkin Community Hospital, Miami, USA., Cuenca VD; Medicine, Universidad San Francisco de Quito, Quito, ECU., Gonzalez D; Medicine, Universidad del Sinu, Cordova, COL., Anwer F; Neurology, California Institute of Behavioral Neurosciences & Psychology, Fairfield, USA., Eissa-Garcés A; Neurology, Universidad San Francisco de Quito, Quito, ECU., Alzamora IM; Medicine, Universidad San Francisco de Quito, Quito, ECU., Paez M; General Medicine, Pontificia Universidad Catolica del Ecuador, Quito, ECU.

Publikováno v: Cureus [Cureus] 2021 Sep 21; Vol. 13 (9), pp. e18154. Date of Electronic Publication: 2021 Sep 21 (Print Publication: 2021).

Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.

Autor: Effraimidis, Grigoris^1,2 (AUTHOR), Rasmussen, Åse Krogh¹ (AUTHOR), Dunoe, Morten³ (AUTHOR), Hasholt, Lis F.⁴ (AUTHOR), Wibrand, Flemming³ (AUTHOR), Sorensen, Soren S.^5,6 (AUTHOR), Lund, Allan M.^6,7 (AUTHOR), Kober, Lars^6,8 (AUTHOR), Bundgaard, Henning^6,8 (AUTHOR), Yazdanfard, Puriya D. W.¹ (AUTHOR), Oturai, Peter^6,9 (AUTHOR), Larsen, Vibeke A.¹⁰ (AUTHOR), de Abreu, Vitor Hugo Fraga¹⁰ (AUTHOR), Enevoldsen, Lotte Hahn⁹ (AUTHOR), Kristensen, Tatiana⁹ (AUTHOR), Svenstrup, Kirsten¹¹ (AUTHOR), Bille, Margrethe Bastholm¹² (AUTHOR), Arif, Farah¹³ (AUTHOR), Mogensen, Mette¹⁴ (AUTHOR), Klokker, Mads¹⁵ (AUTHOR)

Publikováno v: PLoS ONE. 11/16/2022, Vol. 17 Issue 11, p1-18. 18p.

Atıklardan Siyanürün Geri Kazanımı: SART Prosesi.

Autor: YILMAZ, Elif¹ elifkoc@ktu.edu.tr, YAZICI, Ersin Y.¹, CELEP, Oktay¹, DEVECİ, Hacı¹

Publikováno v: Gümüshane Üniversitesi Fen Bilimleri Enstitüsü Dergisi. 2019, Vol. 9 Issue 3, p600-615. 16p.

Stroke Genetics

Autor: Pankaj Sharma, James F. Meschia

This revised, expanded third edition updates the reader on this fast moving field as well providing an overall understanding of the genetics of complex diseases by using stroke as a paradigm. The reader will gain a comprehensive understanding of cere