A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation by Vlckova, Marketa, Prchalova, Darina, Zimmermann, Pavel, Haberlova, Jana, Bendova, Sarka, Moslerova, Veronika, Stranecky, Viktor, Sedlacek, Zdenek, Hancarova, Miroslava

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Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder by Schwarz, Martin, Geryk, Jan, Havlovicová, Markéta, Mihulová, Michaela, Turnovec, Marek, Ryba, Lukáš, Martinková, Júlia, Macek, Milan, Palmer, Richard, Kočandrlová, Karolína, Velemínská, Jana, Moslerová, Veronika

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A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature by Tesner, Pavel, Drabova, Jana, Stolfa, Miroslav, Kudr, Martin, Kyncl, Martin, Moslerova, Veronika, Novotna, Drahuse, Kremlikova Pourova, Radka, Kocarek, Eduard, Rasplickova, Tereza, Sedlacek, Zdenek, Vlckova, Marketa

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Using three‐dimensional geometric morphometry for facial analysis in patients with the oculo‐auriculo‐vertebral spectrum by Poláčková, Petra, Borovec, Jiří, Vašáková, Jana, Patzelt, Matěj, Urbanová, Wanda, Mihulová, Michaela, Macek, Milan, Havlovicová, Markéta, Moslerová, Veronika

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Zimmermann–Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth—A case report of a novel KCNN3 gene variant by Schwarz, Martin, Ryba, Lukáš, Křepelová, Anna, Moslerová, Veronika, Zelinová, Michaela, Turnovec, Marek, Martinková, Júlia, Kratochvílová, Lenka, Drahanský, Martin, Macek, Milan, Havlovicová, Markéta

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Three-dimensional assessment of facial asymmetry in preschool patients with orofacial clefts after neonatal cheiloplasty by Moslerová, Veronika, Dadáková, Martina, Dupej, Ján, Hoffmannova, Eva, Borský, Jiří, Černý, Miloš, Bejda, Přemysl, Kočandrlová, Karolína, Velemínská, Jana

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Modeling age‐specific facial development in Williams–Beuren‐, Noonan‐, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3–18 years: A cross‐sectional three‐dimensio... by Čaplovičová, Martina, Moslerová, Veronika, Dupej, Ján, Macek, Milan, Zemková, Dana, Hoffmannová, Eva, Havlovicová, Markéta, Velemínská, Jana

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Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype by Paderova, Jana, Drabova, Jana, Holubova, Andrea, Vlckova, Marketa, Havlovicova, Marketa, Gregorova, Andrea, Pourova, Radka, Romankova, Vera, Moslerova, Veronika, Geryk, Jan, Norambuena, Patricia, Krulisova, Veronika, Krepelova, Anna, Macek, Milan, Macek, Milan

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3D Facial Gestalt Analysis of Individuals with Mutated PKD1 and PKD2 Genes in Polycystic Kidney Disease: Results of a Czech Pilot Study: PO1586 by Zelinova, Michaela, Moslerová, Veronika, Schwarz, Martin, Turnovec, Marek, Thomasova, Dana

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The Human Phenotype Ontology in 2024: phenotypes around the world by Gargano, Michael A, Matentzoglu, Nicolas, Coleman, Ben, Bagley, Anita M, Balhoff, James P, Bertram, Holli, Botas, Pablo, Cameron, Rhiannon, Caufield, J Harry, Chute, Christopher G, Dahan-Oliel, Noémi, Davids, Jon R, de Dieuleveult, Maud, de Souza, Vinicius, Derfalvi, Beata, Diaz-Byrd, Claudia, Dingemans, Alexander J M, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen V, Fullerton, Janice M, Gabriel, Davera L, Goes, Fernando S, Moses, Rachel Gore, Griese, Matthias, Gu, Weihong, Guthrie, Julia, Hamosh, Ada, Hanauer, Marc, Hanušová, Kateřina, He, Yongqun (Oliver), Hegde, Harshad, Helbig, Ingo, Holasová, Kateřina, Hurwitz, Eric, Jiang, Xiaofeng, Joseph, Lisa, King, Bryan, Knoflach, Katrin, Koolen, David A, Ladewig, Markus S, Lagorce, David, Lai, Meng-Chuan, Lapunzina, Pablo, Lewis-Smith, David, Li, Xiarong, Lucano, Caterina, Majd, Marzieh, Marazita, Mary L, Millett, Caitlin E, Mitchell, Philip B, Narutomi, Kenji, Nematollahi, Shahrzad, Ogishima, Soichi, Ortiz, Abigail, Pachajoa, Harry, Peters, Amy, Putman, Tim, Rapp, Christina K, Rath, Ana, Rekerle, Lauren, Roy, Suzy, Sanders, Stephan J, Schuetz, Catharina, Schulte, Eva C, Schulze, Thomas G, Seelow, Dominik, Seitz, Berthold, Similuk, Morgan N, Simon, Eric S, Singh, Balwinder, Smith, Cynthia L, Smolinsky, Jake T, Sperry, Sarah, Steinhaus, Robin, Sundaramurthi, Jagadish Chandrabose, Tenorio Castano, Jair A, Tesner, Pavel, Thomas, Rhys H, Thurm, Audrey, Turnovec, Marek, van Gijn, Marielle E, Vlčková, Markéta, Walden, Anita, Wiafe, Samuel A, Wiggins, Lisa D, Wu, Chen, Xiong, Hui, Yalin, Nefize, Yamamoto, Yasunori, Yatham, Lakshmi N, Young, Allan H, Yüksel, Zafer, Zankl, Andreas, Toro, Sabrina, Carmody, Leigh C, Harris, Nomi L, Munoz-Torres, Monica C, Köhler, Sebastian, Robinson, Peter N

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Modeling age‐specific facial development in Williams–Beuren‐, Noonan‐, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3–18years: A cross‐sectional three‐dimension... by Čaplovičová, Martina, Moslerová, Veronika, Dupej, Ján, Macek, Milan, Zemková, Dana, Hoffmannová, Eva, Havlovicová, Markéta, Velemínská, Jana

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Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative by Nellåker, Christoffer, Alkuraya, Fowzan S, Baynam, Gareth, Bernier, Raphael A, Bernier, Francois P J, Boulanger, Vanessa, Brudno, Michael, Brunner, Han G, Clayton-Smith, Jill, Cogné, Benjamin, Dawkins, Hugh J S, deVries, Bert B A, Douzgou, Sofia, Dudding-Byth, Tracy, Eichler, Evan E, Ferlaino, Michael, Fieggen, Karen, Firth, Helen V, FitzPatrick, David R, Gration, Dylan, Groza, Tudor, Haendel, Melissa, Hallowell, Nina, Hamosh, Ada, Hehir-Kwa, Jayne, Hitz, Marc-Phillip, Hughes, Mark, Kini, Usha, Kleefstra, Tjitske, Kooy, R Frank, Krawitz, Peter, Küry, Sébastien, Lees, Melissa, Lyon, Gholson J, Lyonnet, Stanislas, Marcadier, Julien L, Meyn, Stephen, Moslerová, Veronika, Politei, Juan M, Poulton, Cathryn C, Raymond, F Lucy, Reijnders, Margot R F, Robinson, Peter N, Romano, Corrado, Rose, Catherine M, Sainsbury, David C G, Schofield, Lyn, Sutton, Vernon R, Turnovec, Marek, Van Dijck, Anke, Van Esch, Hilde, Wilkie, Andrew O M

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A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature by Tesner, Pavel, Drabova, Jana, Stolfa, Miroslav, Kudr, Martin, Kyncl, Martin, Moslerova, Veronika, Novotna, Drahuse, Kremlikova Pourova, Radka, Kocarek, Eduard, Rasplickova, Tereza, Sedlacek, Zdenek, Vlckova, Marketa

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