Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders von Wayhelova, Marketa, Vallova, Vladimira, Broz, Petr, Mikulasova, Aneta, Smetana, Jan, Dynkova Filkova, Hana, Machackova, Dominika, Handzusova, Kristina, Gaillyova, Renata, Kuglik, Petr

Volltext

Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development von Wayhelova, Marketa, Vallova, Vladimira, Broz, Petr, Mikulasova, Aneta, Loubalova, Dominika, Filkova, Hana, Smetana, Jan, Drabova, Klara, Gaillyova, Renata, Kuglik, Petr

Volltext

A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report von Wayhelova, Marketa, Vallova, Vladimira, Broz, Petr, Mikulasova, Aneta, Machackova, Dominika, Filkova, Hana Dynkova, Smetana, Jan, Takacsova, Alena, Gaillyova, Renata, Kuglik, Petr

Volltext

Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype von Smetana, Jan, Vallova, Vladimira, Wayhelova, Marketa, Hladilkova, Eva, Filkova, Hana, Horinova, Vera, Broz, Petr, Mikulasova, Aneta, Gaillyova, Renata, Kuglík, Petr

Volltext

The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay von Wayhelova, Marketa, Smetana, Jan, Vallova, Vladimira, Hladilkova, Eva, Filkova, Hana, Hanakova, Marta, Vilemova, Marcela, Nikolova, Petra, Gromesova, Barbora, Gaillyova, Renata, Kuglik, Petr

Volltext

Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay von Wayhelova, Marketa, Oppelt, Jan, Smetana, Jan, Hladilkova, Eva, Filkova, Hana, Makaturova, Eva, Nikolova, Petra, Beharka, Rastislav, Gaillyova, Renata, Kuglik, Petr

Volltext

Low-level copy number changes of MYC genes have a prognostic impact in medulloblastoma von Zitterbart, Karel, Filkova, Hana, Tomasikova, Lenka, Necesalova, Eva, Zambo, Iva, Kantorova, Dagmar, Slamova, Iva, Vranova, Vladimira, Zezulkova, Dita, Pesakova, Martina, Pavelka, Zdenek, Veselska, Renata, Kuglik, Petr, Sterba, Jaroslav

Volltext

Gain(1)(q21) Defines Group of Newly Diagnosed Multiple Myeloma Patients with Poor Prognosis von Nemec, Pavel, Greslikova, Henrieta, Zaoralova, Romana, Smetana, Jan, Filkova, Hana, Dementyeva, Elena, Kupska, Renata, Berankova, Kristina, Mikulasova, Aneta, Pour, Ludek, Zahradova, Lenka, Kuglik, Petr, Hajek, Roman

Volltext

Prognostic Significance of Morphological Evaluation of Tumor Cells in Multiple Myeloma von Al-sahmani, Mohammed, Trnavska, Irena, Antosova, Monika, Antosova, Libuse, Kissova, Jarmila, Filkova, Hana, Smetana, Jan, Adam, Zdenek, Pour, Ludek, Krejci, Marta, Zahradova, Lenka, Bulikova, Alena, Penka, Miroslav, Kuglik, Petr, Hajek, Roman

Volltext

Newly Diagnosed Multiple Myeloma Patients with 1q21 Amplification Treated by Autologous Stem Cell Transplantation Have Shorter Progression-Free Survival Interval von Nemec, Pavel, Greslikova, Henrieta, Kuglik, Petr, Filkova, Hana, Zaoralova, Romana, Vranova, Vladimira, Smejkalova, Jana, Vidlakova, Petra, Oltova, Alexandra, Hajek, Roman

Volltext

Gain of 1q21 Is an Unfavorable Genetic Prognostic Factor for Multiple Myeloma Patients Treated with High-Dose Chemotherapy von Nemec, Pavel, Zemanova, Zuzana, Greslikova, Henrieta, Michalova, Kyra, Filkova, Hana, Tajtlova, Jana, Kralova, Dana, Kupska, Renata, Smetana, Jan, Krejci, Marta, Pour, Ludek, Zahradova, Lenka, Sandecka, Viera, Adam, Zdenek, Buchler, Tomas, Spicka, Ivan, Gregora, Evzen, Kuglik, Petr, Hajek, Roman

Volltext

Additional file 5 of Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders von Wayhelova, Marketa, Vallova, Vladimira, Broz, Petr, Mikulasova, Aneta, Smetana, Jan, Dynkova Filkova, Hana, Machackova, Dominika, Handzusova, Kristina, Gaillyova, Renata, Kuglik, Petr

Volltext bestellen

Additional file 9 of Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders von Wayhelova, Marketa, Vallova, Vladimira, Broz, Petr, Mikulasova, Aneta, Smetana, Jan, Dynkova Filkova, Hana, Machackova, Dominika, Handzusova, Kristina, Gaillyova, Renata, Kuglik, Petr

Volltext bestellen

Additional file 3 of Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders von Wayhelova, Marketa, Vallova, Vladimira, Broz, Petr, Mikulasova, Aneta, Smetana, Jan, Dynkova Filkova, Hana, Machackova, Dominika, Handzusova, Kristina, Gaillyova, Renata, Kuglik, Petr

Volltext bestellen

Additional file 4 of Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders von Wayhelova, Marketa, Vallova, Vladimira, Broz, Petr, Mikulasova, Aneta, Smetana, Jan, Dynkova Filkova, Hana, Machackova, Dominika, Handzusova, Kristina, Gaillyova, Renata, Kuglik, Petr

Volltext bestellen

Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype von Smetana, Jan, Vallova, Vladimira, Wayhelova, Marketa, Hladilkova, Eva, Filkova, Hana, Horinova, Vera, Broz, Petr, Mikulasova, Aneta, Gaillyova, Renata, Kuglík, Petr

Volltext

Additional file 5: of The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and... von Marketa Wayhelova, Smetana, Jan, Vallova, Vladimira, Hladilkova, Eva, Filkova, Hana, Hanakova, Marta, Vilemova, Marcela, Nikolova, Petra, Gromesova, Barbora, Gaillyova, Renata, Kuglik, Petr

Volltext bestellen

Additional file 2: of The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and... von Marketa Wayhelova, Smetana, Jan, Vallova, Vladimira, Hladilkova, Eva, Filkova, Hana, Hanakova, Marta, Vilemova, Marcela, Nikolova, Petra, Gromesova, Barbora, Gaillyova, Renata, Kuglik, Petr

Volltext bestellen

Additional file 4: of The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and... von Marketa Wayhelova, Smetana, Jan, Vallova, Vladimira, Hladilkova, Eva, Filkova, Hana, Hanakova, Marta, Vilemova, Marcela, Nikolova, Petra, Gromesova, Barbora, Gaillyova, Renata, Kuglik, Petr

Volltext bestellen

Additional file 6: of The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and... von Marketa Wayhelova, Smetana, Jan, Vallova, Vladimira, Hladilkova, Eva, Filkova, Hana, Hanakova, Marta, Vilemova, Marcela, Nikolova, Petra, Gromesova, Barbora, Gaillyova, Renata, Kuglik, Petr

Volltext bestellen