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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease ( vol 18 , e0288907 , 2023) Neroldova, Magdalena; Ciara, Elzbieta; Slatinska, Janka; Frankova, Sona; Liskova, Petra; Kotalova, Radana; Globinovska, Janka; Safarikova, Marketa; Pfeiferova, Lucie; Zunova, Hana; Mrazova, Lenka; Stranecky, Viktor; Vrbacka, Alena; Fabian, Ondrej; Sticova, Eva; Skanderova, Daniela; Sperl, Jan; Kalousova, Marta; Zima, Tomas; Macek, Milan; Pawlowska, Joanna; Knisely, A. S.; Kmoch, Stanislav; Jirsa, Milan Share Save
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy Bonaventura, Jiri; Rowin, Ethan J.; Chan, Raymond H.; Chin, Michael T.; Puchnerova, Veronika; Polakova, Eva; Macek, Milan; Votypka, Pavel; Batorsky, Rebecca; Perera, Gayani; Koethe, Benjamin; Veselka, Josef; Maron, Barry J.; Maron, Martin S. Share Save
Standards for the care of people with cystic fibrosis (CF); Planning for a longer life Gramegna, Andrea; Addy, Charlotte; Allen, Lorna; Bakkeheim, Egil; Brown, Catherine; Daniels, Thomas; Davies, Gwyneth; Davies, Jane C.; De Marie, Ken; Downey, Damian; Felton, Imogen; Hafkemeyer, Sylvia; Hamouda, Samia; Kendall, Victoria; Lindberg, Ulrika; Macek, Milan; Mayell, Sarah; Pearlsman, Oren; Schechter, Michael S.; Salvatori, Lidia; Sands, Dorota; Schwarz, Carsten; Shteinberg, Michal; Taylor, Julia; Taylor-Cousar, Jennifer L.; Taylor-Robinson, David; Watkins, Bethan; Verkleij, Marieke; Bevan, Amanda; Castellani, Carlo; Drevinek, Pavel; Gartner, Silvia; Lammertyn, Elise; Landau, Eddie (Edwina) C.; Middleton, Peter G.; Plant, Barry J.; Smyth, Alan R.; van Koningsbruggen-Rietschel, Silke; Burgel, Pierre-Regis; Southern, Kevin W. Share Save
Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder Schwarz, Martin; Geryk, Jan; Havlovicova, Marketa; Mihulova, Michaela; Turnovec, Marek; Ryba, Lukas; Martinkova, Julia; Macek Jr, Milan; Palmer, Richard; Kocandrlova, Karolina; Veleminska, Jana; Moslerova, Veronika Share Save
Precision medicine in cystic fibrosis: predictive role of forskolin-induced swelling assay Furstova, Eva; Drevinek, Pavel; Novotna, Stepanka; Libik, Malgorzata; Benesova, Klara; Borek-Dohalska, Lucie; Sakmarova, Kristina; Modrak, Martin; Macek Jr, Milan; Dousova, Tereza Share Save
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood Thomasova, Dana; Zelinova, Michaela; Libik, Malgorzata; Geryk, Jan; Votypka, Pavel; Bloudickova, Silvie Rajnochova; Krejci, Karel; Reiterova, Jana; Jancova, Eva; Machova, Jana; Kollarova, Martina; Rychik, Ivan; Havrda, Martin; Horackova, Miroslava; Putzova, Martina; Safranek, Roman; Kollar, Marek; Macek Jr, Milan Share Save
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Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification Bloch-Zupan, Agnes; Rey, Tristan; Jimenez-Armijo, Alexandra; Kawczynski, Marzena; Kharouf, Naji; de La Dure-Molla, Muriel; Noirrit, Emmanuelle; Hernandez, Magali; Joseph-Beaudin, Clara; Lopez, Serena; Tardieu, Corinne; Thivichon-Prince, Beatrice; Dostalova, Tatjana; Macek Jr, Milan; El Alloussi, Mustapha; Qebibo, Leila; Morkmued, Supawich; Pungchanchaikul, Patimaporn; Orellana, Blanca Urzua; Maniere, Marie-Cecile; Gerard, Benedicte; Bugueno, Isaac Maximiliano; Laugel-Haushalter, Virginie Share Save
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants Bento, Jotte Rodrigues; Krebsova, Alice; Van Gucht, Ilse; Callejon, Irene Valdivia; Van Berendoncks, An; Votypka, Pavel; Luyckx, Ilse; Peldova, Petra; Laga, Steven; Havelka, Marek; Van Laer, Lut; Trunecka, Pavel; Boeckx, Nele; Verstraeten, Aline; Macek, Milan; Meester, Josephina A. N.; Loeys, Bart Share Save
Recommendations for whole genome sequencing in diagnostics for rare diseases Souche, Erika; Beltran, Sergi; Brosens, Erwin; Belmont, John W.; Fossum, Magdalena; Riess, Olaf; Gilissen, Christian; Ardeshirdavani, Amin; Houge, Gunnar; van Gijn, Marielle; Clayton-Smith, Jill; Synofzik, Matthis; de Leeuw, Nicole; Deans, Zandra C.; Dincer, Yasemin; Eck, Sebastian H.; van eer Crabben, Saskia; Balasubramanian, Meena; Graessner, Holm; Sturm, Marc; Firth, Helen; Ferlini, Alessandra; Nabbout, Rima; De Baere, Elfride; Liehr, Thomas; Macek, Milan; Matthijs, Gert; Scheffer, Hans; Bauer, Peter; Yntema, Helger G.; Weiss, Marjan M. Share Save
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK Kanderova, Veronika; Svobodova, Tamara; Borna, Simon; Fejtkova, Martina; Martinu, Vendula; Paderova, Jana; Svaton, Michael; Kralova, Jarmila; Fronkova, Eva; Klocperk, Adam; Pruhova, Stepanka; Lee-Kirsch, Min Ae; Hornofova, Ludmila; Koblizek, Miroslav; Novak, Petr; Zimmermannova, Olga; Parackova, Zuzana; Sediva, Anna; Kalina, Tomas; Janda, Ales; Kayserova, Jana; Dvorakova, Marcela; Macek, Milan; Pohunek, Petr; Sedlacek, Petr; Poh, Ashleigh; Ernst, Matthias; Brdicka, Tomas; Hrusak, Ondrej; Lebl, Jan Share Save
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