Papers matching “additional chromosomal abnormalities” 33
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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study2022 The American Journal of Human Genetics article Medicine Prenatal Screening and Diagnostics Open access
Lisanne van Prooyen Schuurman, Erik A. Sistermans, Diane Van Opstal, Lidewij Henneman, Mireille N. Bekker, Caroline J. Bax, +28 more
98citations -
Additional file 1 of Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Željka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
Additional file 1 of Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Zeljka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
Additional file 2 of Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare dataset Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Zeljka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
Additional file 2 of Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare dataset Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Željka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
Depletion of TP53 in Human Pluripotent Stem Cells Triggers Malignant‐Like Behavior2025 Advanced Biology article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access
Joaquin Montilla‐Rojo, Thomas F. Eleveld, Marnix van Soest, Sanne Hillenius, Dennis M. Timmerman, Ad Gillis, +4 more
1citations -
Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study2022 Frontiers in Immunology article Biochemistry, Genetics and Molecular Biology Blood disorders and treatments Open access
Khaled Atmar, Claudia A. L. Ruivenkamp, Hélène L. Hooimeijer, Esther A. R. Nibbeling, Corien L. Eckhardt, Elise J. Huisman, +6 more
7citations -
Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare other Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Zeljka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Molecular Medicine article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Željka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare other Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Željka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
monarch-initiative/mondo: v2026-06-022026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, Trish Whetzel, MeeSiing Ngu, +21 more
0citations -
Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes2022 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Elise J. Huisman, A. Rick Brooimans, Samone Mayer, Marieke Joosten, Louis J Bont, Elisabeth L. M. Rammeloo, +6 more
7citations -
Patients with Chromosome 11q-abberations are Characterized by a Combined Primary Immunodeficiency Involving Both B- and T-lymphocytes2021 Research Square preprint Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Elise J. Huisman, A. Rick Brooimans, Samone Mayer, Marieke Joosten, Louis J Bont, Elisabeth L. M. Rammeloo, +6 more
0citations -
Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome2025 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Emilia D’Angelo, Laura Pignata, Francesco Cecere, Alessandro Vimercati, Maria Vittoria Cubellis, Abu Saadat, +9 more
2citations -
Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome2020 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Carla Eßinger, Stephanie Karch, Ute Moog, György Fekete, Anna Lengyel, Éva Pinti, +2 more
17citations