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Author/Creator Trujillano, Daniel

2. Contribution of the TTC21B gene to glomerular and cystic kidney diseases. Issue 1 (2nd March 2016)

Authors:
Bullich, Gemma; Vargas, Iván; Trujillano, Daniel; Mendizábal, Santiago; Piñero-Fernández, Juan Alberto; Fraga, Gloria; García-Solano, José; Ballarín, José; Estivill, Xavier; Torra, Roser; Ars, Elisabet
Journal:
Nephrology dialysis transplantation
Issue:
Volume 32:Issue 1(2017)
Page Start:
151
Record Type:
Journal Article
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4. Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C. Issue 9 (8th June 2016)

Authors:
Hebbar, Malavika; Prasada L, Harsha; Bhowmik, Aneek Das; Trujillano, Daniel; Shukla, Anju; Chakraborti, Shrijeet; Kandaswamy, Krishna Kumar; Rolfs, Arndt; Kamath, Nutan; Dalal, Ashwin; Bielas, Stephanie; Girisha, Katta Mohan
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 9(2016)
Page Start:
2486
Record Type:
Journal Article
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6. Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. (13th January 2017)

Authors:
Lohmann, Katja; Masuho, Ikuo; Patil, Dipak N.; Baumann, Hauke; Hebert, Eva; Steinrücke, Sofia; Trujillano, Daniel; Skamangas, Nickolas K.; Dobricic, Valerija; Hüning, Irina; Gillessen-Kaesbach, Gabriele; Westenberger, Ana; Savic-Pavicevic, Dusanka; Münchau, Alexander; Oprea, Gabriela; Klein, Chri...
Journal:
Human molecular genetics
Issue:
Volume 26:Number 6(2017:Mar. 15)
Page Start:
1078
Record Type:
Journal Article
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7. Validation of a semiconductor next‐generation sequencing assay for the clinical genetic screening of CFTR. Issue 5 (16th April 2015)

Authors:
Trujillano, Daniel; Weiss, Maximilian E. R.; Köster, Julia; Papachristos, Efstathios B.; Werber, Martin; Kandaswamy, Krishna Kumar; Marais, Anett; Eichler, Sabrina; Creed, Jenny; Baysal, Erol; Jaber, Iqbal Yousuf; Mehaney, Dina Ahmed; Farra, Chantal; Rolfs, Arndt
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 3:Issue 5(2015:Sep.)
Page Start:
396
Record Type:
Journal Article
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