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	1.	Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report. [electronic resource] by Varga, Lukas Danis, Daniel Skopkova, Martina Masindova, Ivica Slobodova, Zuzana Demesova, Lucia Profant, Milan Gasperikova, Daniela Producer: 20190930 In: BMC medical genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients. [electronic resource] by Danis, Daniel Brennerova, Katarina Skopkova, Martina Kurdiova, Timea Ukropec, Jozef Stanik, Juraj Kolnikova, Miriam Gasperikova, Daniela Producer: 20190904 In: Endocrine regulations vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. [electronic resource] by Stanik, Juraj Skopkova, Martina Brennerova, Katarina Danis, Daniel Rosolankova, Monika Salingova, Anna Bzduch, Vladimir Klimes, Iwar Gasperikova, Daniela Producer: 20170606 In: Diabetes research and clinical practice vol. 126 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene. [electronic resource] by Kolnikova, Miriam Skopkova, Martina Ilencikova, Denisa Foltan, Tomas Payerova, Jaroslava Danis, Daniel Klimes, Iwar Stanik, Juraj Gasperikova, Daniela Producer: 20180924 In: Seizure vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution. [electronic resource] by Hansen, Peter Ali, Salaheddine Blau, Hannah Danis, Daniel Hecht, Jochen Kornak, Uwe Lupiáñez, Darío G Mundlos, Stefan Steinhaus, Robin Robinson, Peter N Producer: 20190621 In: BMC genomics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes. [electronic resource] by Carmody, Leigh C Blau, Hannah Danis, Daniel Zhang, Xingman A Gourdine, Jean-Philippe Vasilevsky, Nicole Krawitz, Peter Thompson, Miles D Robinson, Peter N Producer: 20210618 In: Orphanet journal of rare diseases vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa. [electronic resource] by Skopkova, Martina Ciljakova, Miriam Havlicekova, Zuzana Vojtkova, Jarmila Valentinova, Lucia Danis, Daniel Murgas, Dalibor Szepeova, Renata Stanik, Juraj Banovcin, Peter Klimes, Iwar Gasperikova, Daniela Producer: 20170202 In: European journal of medical genetics vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data. [electronic resource] by Cipriani, Valentina Pontikos, Nikolas Arno, Gavin Sergouniotis, Panagiotis I Lenassi, Eva Thawong, Penpitcha Danis, Daniel Michaelides, Michel Webster, Andrew R Moore, Anthony T Robinson, Peter N Jacobsen, Julius O B Smedley, Damian Producer: 20210326 In: Genes vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics. [electronic resource] by Köhler, Sebastian Øien, N Christine Buske, Orion J Groza, Tudor Jacobsen, Julius O B McNamara, Craig Vasilevsky, Nicole Carmody, Leigh C Gourdine, J P Gargano, Michael McMurry, Julie A Danis, Daniel Mungall, Christopher J Smedley, Damian Haendel, Melissa Robinson, Peter N Producer: 20200515 In: Current protocols in human genetics vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery. [electronic resource] by Zhang, Xingmin Aaron Yates, Amy Vasilevsky, Nicole Gourdine, J P Callahan, Tiffany J Carmody, Leigh C Danis, Daniel Joachimiak, Marcin P Ravanmehr, Vida Pfaff, Emily R Champion, James Robasky, Kimberly Xu, Hao Fecho, Karamarie Walton, Nephi A Zhu, Richard L Ramsdill, Justin Mungall, Christopher J Köhler, Sebastian Haendel, Melissa A McDonald, Clement J Vreeman, Daniel J Peden, David B Bennett, Tellen D Feinstein, James A Martin, Blake Stefanski, Adrianne L Hunter, Lawrence E Chute, Christopher G Robinson, Peter N Publication details: NPJ digital medicine 2019 In: NPJ digital medicine vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. [electronic resource] by Köhler, Sebastian Carmody, Leigh Vasilevsky, Nicole Jacobsen, Julius O B Danis, Daniel Gourdine, Jean-Philippe Gargano, Michael Harris, Nomi L Matentzoglu, Nicolas McMurry, Julie A Osumi-Sutherland, David Cipriani, Valentina Balhoff, James P Conlin, Tom Blau, Hannah Baynam, Gareth Palmer, Richard Gratian, Dylan Dawkins, Hugh Segal, Michael Jansen, Anna C Muaz, Ahmed Chang, Willie H Bergerson, Jenna Laulederkind, Stanley J F Yüksel, Zafer Beltran, Sergi Freeman, Alexandra F Sergouniotis, Panagiotis I Durkin, Daniel Storm, Andrea L Hanauer, Marc Brudno, Michael Bello, Susan M Sincan, Murat Rageth, Kayli Wheeler, Matthew T Oegema, Renske Lourghi, Halima Della Rocca, Maria G Thompson, Rachel Castellanos, Francisco Priest, James Cunningham-Rundles, Charlotte Hegde, Ayushi Lovering, Ruth C Hajek, Catherine Olry, Annie Notarangelo, Luigi Similuk, Morgan Zhang, Xingmin A Gómez-Andrés, David Lochmüller, Hanns Dollfus, Hélène Rosenzweig, Sergio Marwaha, Shruti Rath, Ana Sullivan, Kathleen Smith, Cynthia Milner, Joshua D Leroux, Dorothée Boerkoel, Cornelius F Klion, Amy Carter, Melody C Groza, Tudor Smedley, Damian Haendel, Melissa A Mungall, Chris Robinson, Peter N Producer: 20200518 In: Nucleic acids research vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)