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Published in Molecular genetics & genomic medicine (01.06.2023)
Published in Molecular genetics & genomic medicine (01.06.2023)
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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
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Published in Molecular cytogenetics (09.05.2018)
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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
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Published in Scientific reports (30.04.2024)
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Using three‐dimensional geometric morphometry for facial analysis in patients with the oculo‐auriculo‐vertebral spectrum
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Published in Orthodontics & craniofacial research (01.12.2024)
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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
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Published in American journal of medical genetics. Part A (01.04.2022)
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Three-dimensional assessment of facial asymmetry in preschool patients with orofacial clefts after neonatal cheiloplasty
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Published in International journal of pediatric otorhinolaryngology (01.05.2018)
Published in International journal of pediatric otorhinolaryngology (01.05.2018)
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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‐dimensional geometric morphometry analysis of their facial gestalt
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Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
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Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype
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Published in European journal of medical genetics (01.06.2018)
Published in European journal of medical genetics (01.06.2018)
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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
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Published in Journal of the American Society of Nephrology (01.10.2020)
Published in Journal of the American Society of Nephrology (01.10.2020)
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The Human Phenotype Ontology in 2024: phenotypes around the world
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Published in Nucleic acids research (05.01.2024)
Published in Nucleic acids research (05.01.2024)
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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‐dimensional geometric morphometry analysis of their facial gestalt
Čaplovičová, Martina, Moslerová, Veronika, Dupej, Ján, Macek, Milan, Zemková, Dana, Hoffmannová, Eva, Havlovicová, Markéta, Velemínská, Jana
Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
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Published in Frontiers in genetics (29.07.2019)
Published in Frontiers in genetics (29.07.2019)
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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
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
Published in Molecular cytogenetics (01.01.2018)
Published in Molecular cytogenetics (01.01.2018)
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