المؤلفون: Izabela M. Krzyzewska, Peter Lauffer, Adri N. Mul, Liselot van der Laan, Andrew Y. F. Li Yim, Jan Maarten Cobben, Jacek Niklinski, Monika A. Chomczyk, Robert Smigiel, Marcel M. A. M. Mannens, Peter Henneman

المساهمون: Human genetics, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Paediatrics, Graduate School, Paediatric Endocrinology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Gastroenterology and Hepatology, ACS - Atherosclerosis & ischemic syndromes

المصدر: International Journal of Molecular Sciences, 24(7):6601. Multidisciplinary Digital Publishing Institute (MDPI)
Krzyzewska, I M, Lauffer, P, Mul, A N, van der Laan, L, Yim, A Y F L, Cobben, J M, Niklinski, J, Chomczyk, M A, Smigiel, R, Mannens, M M A M & Henneman, P 2023, ' Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD) ', International Journal of Molecular Sciences, vol. 24, no. 7, 6601 . https://doi.org/10.3390/ijms24076601Test
International journal of molecular sciences, 24(7):6601. Multidisciplinary Digital Publishing Institute (MDPI)

مصطلحات موضوعية: Inorganic Chemistry, DNA methylation, Organic Chemistry, FASD, gene expression, General Medicine, fetal alcohol spectrum disorder, Physical and Theoretical Chemistry, Molecular Biology, Spectroscopy, Catalysis, Computer Science Applications, eQTM

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d666b71d03d544c0bdf3cfba34cfa87Test
https://research.vumc.nl/en/publications/0aacc1c0-b827-42f3-8855-2c5a87f700f1Test

المؤلفون: Joanna Chruszcz, Krystyna Szymańska, Mateusz Biela, Karolina Pieniawska-Smiech, Małgorzata Rydzanicz, Leszek Szenborn, Robert Smigiel, Malgorzata Kuzior-Plawiak, Lucyna Benben, Aleksandra Lewandowicz-Uszyńska, Aleksandra Jakubiak, Rafał Płoski, Pawel Szyld

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pes cavus, Pediatrics, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, Choreiform movement, Encephalopathy, relapsing encephalopathy, QH426-470, Clinical Reports, ATP1A3, Genetics, medicine, Humans, hypotonia, Molecular Biology, Genetics (clinical), Clinical Report, Cerebellar ataxia, business.industry, medicine.disease, Hypotonia, Phenotype, Child, Preschool, Mutation, whole‐exome sequencing, Female, Sensorineural hearing loss, Sodium-Potassium-Exchanging ATPase, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a37eb710b4406996eee74d941660d3b7Test
https://doi.org/10.1002/mgg3.1772Test

المؤلفون: Małgorzata Rydzanicz, Peter J. Brophy, Joanna Kosińska, Anna Biernacka, Robert Smigiel, Dorota Mikolajkow, Barbara Królak-Olejnik, Maria M. Sasiadek, Diane L. Sherman, Anna Walczak, Witalij Andrzejewski, Rafał Płoski, Paweł Krajewski, Maria Boczar, Malgorzata Marciniak, Piotr Gasperowicz, Piotr Stawiński

المصدر: Human Molecular Genetics
Smigiel, R, Sherman, D L, Rydzanicz, M, Walczak, A, Mikolajkow, D, Krolak-Olejnik, B, Kosinska, J, Gasperowicz, P, Biernacka, A, Stawinski, P, Marciniak, M, Andrzejewski, W, Boczar, M, Krajewski, P, Sasiadek, M M, Brophy, P J & Ploski, R 2018, ' Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia ', Human Molecular Genetics, vol. 27, no. 21, pp. 3669–3674 . https://doi.org/10.1093/hmg/ddy277Test

مصطلحات موضوعية: 0301 basic medicine, Proband, Gene isoform, NFASC, DNA Mutational Analysis, Biology, medicine.disease_cause, Mice, 03 medical and health sciences, 0302 clinical medicine, Paranodal junction, Conditioning, Psychological, Genetics, medicine, Animals, Humans, Protein Isoforms, Nerve Growth Factors, Molecular Biology, Genetics (clinical), Mutation, Node of Ranvier, Homozygote, Infant, Syndrome, General Medicine, Hypotonia, Cell biology, Intercellular Junctions, 030104 developmental biology, medicine.anatomical_structure, nervous system, Muscle Hypotonia, Neuroglia, Female, Poland, General Article, Nervous System Diseases, medicine.symptom, Cell Adhesion Molecules, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9905faa3345aeb132ad3094601ef270cTest
https://doi.org/10.1093/hmg/ddy277Test

المؤلفون: Joanna Kosińska, Małgorzata Rydzanicz, Robert Smigiel, Rafał Płoski, Agnieszka Pollak, Piotr Stawiński, Ryszard Slezak, Maria M. Sasiadek

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)

مصطلحات موضوعية: 0301 basic medicine, Proband, SON gene, Male, Pediatrics, medicine.medical_specialty, Heterozygote, lcsh:QH426-470, Developmental Disabilities, 030105 genetics & heredity, Gene mutation, Clinical Reports, Frameshift mutation, Hypoplastic left heart syndrome, Minor Histocompatibility Antigens, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Frameshift Mutation, Molecular Biology, Genetics (clinical), Clinical Report, business.industry, psychomotor delay, Syndrome, medicine.disease, Hypotonia, DNA-Binding Proteins, lcsh:Genetics, 030104 developmental biology, Phenotype, intellectual disability, Child, Preschool, Speech delay, Zhu‐Tokita‐Takenouchi‐Kim syndrome, medicine.symptom, business, Ventriculomegaly

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6f0010ba05f1995a7236783dc514ffdTest
http://europepmc.org/articles/PMC7549597Test

المؤلفون: Maria M. Sasiadek, Anna Walczak, Gerd Landsberg, Agnieszka Pollak, Anna Stodolak, Rafał Płoski, Oliver J. Gruss, Hanna Mierzewska, Maximilian Schilling, Robert Smigiel, Piotr Stawiński, Małgorzata Rydzanicz

المصدر: European Journal of Human Genetics. 26:1502-1511

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Protein tyrosine phosphatase, Biology, Compound heterozygosity, Article, 03 medical and health sciences, Atrophy, Exome Sequencing, Genetics, medicine, Humans, Child, Genetics (clinical), Exome sequencing, Cell Nucleus, Motor Neurons, Brain, SMN Complex Proteins, Fibroblasts, Motor neuron, Protein Tyrosine Phosphatases, Non-Receptor, medicine.disease, Molecular biology, 030104 developmental biology, medicine.anatomical_structure, Cajal body, RNA splicing, Female, Spasms, Infantile

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f31d815570750a78b5a4671c4db9e787Test
https://doi.org/10.1038/s41431-018-0179-2Test

المؤلفون: David A. Lyons, Siddharthan Chandran, Owen G. James, Robert Smigiel, Charles ffrench-Constant, Peter Connick, David Story, David W. Hampton, Peter J. Brophy, Samantha K. Barton, Rafał Płoski, Navneet A. Vasistha, Karen Burr, Dario Magnani, Bhuvaneish T. Selvaraj

المصدر: Developmental Cell
James, O G, Selvaraj, B T, Magnani, D, Burr, K, Connick, P, Barton, S K, Vasistha, N A, Hampton, D W, Story, D, Smigiel, R, Ploski, R, Brophy, P J, Ffrench-constant, C, Lyons, D A & Chandran, S 2021, ' iPSC-derived myelinoids to study myelin biology of humans ', Developmental Cell, vol. 56, no. 9, pp. 1346-1358.e6 . https://doi.org/10.1016/j.devcel.2021.04.006Test

مصطلحات موضوعية: Technology, Time Factors, organoid, Induced Pluripotent Stem Cells, Central nervous system, myelinoid, Biology, Synaptic vesicle, adaptive myelination, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Myelin, 0302 clinical medicine, Tetanus Toxin, Myelinated axon, Compact myelin, Gene expression, medicine, Humans, Nerve Growth Factors, Molecular Biology, Myelin Sheath, 030304 developmental biology, 0303 health sciences, iPSC, Correction, Cell Biology, Axons, Oligodendrocyte, paranode, disease modelling, Organoids, myelin, medicine.anatomical_structure, nervous system, human stem cell, human myelination, Neuroscience, oligodendrocyte, 030217 neurology & neurosurgery, Function (biology), Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09c119b92c7b5a2ec430b05a6f73c984Test
https://doi.org/10.1016/j.devcel.2021.04.006Test

المؤلفون: Izabela Łaczmańska, Karolina Pesz, Anna Doraczyńska-Kowalik, Maria M. Sąsiadek, Robert Smigiel, Joanna Kozlowska, Halina Czemarmazowicz, Ryszard Slezak, Agnieszka Stembalska, Paweł Skiba, Izabela Makowska, Justyna Gil, Aleksandra Jakubiak

المصدر: Polish Gynaecology. 86:694-699

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Fetus, Trisomy 13 Syndrome, business.industry, Obstetrics and Gynecology, Aneuploidy, Prenatal diagnosis, Karyotype, medicine.disease, Molecular biology, law.invention, law, medicine, Trisomy, business, X chromosome, Polymerase chain reaction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1c8f3867ed78521472b658de99b6f926Test
https://doi.org/10.17772/gp/59024Test

المؤلفون: Lilia Maria de Azevedo Moreira, Joris A. Veltman, Anne Destree, Ercan Mihci, Banu Güzel Nur, Charles Marques Lourenço, Eva Rossier, Simon E. Fisher, Julie S. Cohen, Julie Hoover-Fong, Viviane Borges Ferreira, Mariana Aracena, Aida Telegrafi, Kátia Maria da Rocha, Alexander Hoischen, Julie McGaughran, Hülya Kayserili, Anthony Vandersteen, Lindsday A. Lambie, Bert B.A. de Vries, Sarah A. Graham, Heiko Reutter, Alessandra Baumer, Pelagia Deriziotis, Andreas Dufke, Maria Luisa Giovannucci Uzielli, Robert Smigiel, Theresa A. Grebe, Albert Schinzel, Christian Gilissen, Bregje W.M. van Bon, Careni Spencer, Marloes Steehouwer, Martin Smitka, Alice S. Brooks, Umut Altunoglu, Elisabetta Lapi, Charu Deshpande, Aleksandra Jezela-Stanek, Dafne Dain Gandelman Horovitz, Nataliya Di Donato, Ali Fatemi, Gwenaelle Andre, Lude Franke, Rocio Acuna-Hidalgo, Sipko van Dam

المساهمون: Clinical Genetics, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah, Dam, Sipko van, Hoover-Fong, Julie, Telegrafi, Aida, Destree, Anne, Smigiel, Robert, Lambie, Lindsday, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G., Mihci, Ercan, Moreira, Lilia M. A., Borges Ferreira, Viviane, Horovitz, Dafne D. G., Rocha, Katia M. da, Jezela-Stanek, Aleksandra, Brooks, Alice S., Reutter, Heiko, Cohen, Julie S., Fatemi, Ali, Smitka, Martin, Grebe, Theresa A., Donato, Nataliya Di, Deshpande, Charu, Vandersteen, Anthony, Lourenço, Charles Marques, Dufke, Andreas, Rossier, Eva, Andre, Gwenaelle, Baumer, Alessandra, Spencer, Careni, McGaughran, Julie, Franke, Lude, Veltman, Joris A., Vries, Bert B. A. de, Schinzel, Albert, Fisher, Simon E., Hoischen, Alexander, Bon, Bregje W. van, School of Medicine, Department of Genetics, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL)

المصدر: PLoS Genetics
PLoS Genetics (online), 13(3):e1006683. Public Library of Science
PLoS genetics, 13(3). PUBLIC LIBRARY SCIENCE
Plos Genetics, 13, e1006683-e1006683
Plos Genetics, 13, 3, pp. e1006683-e1006683
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
PLOS Genetics

مصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, Somatic cell, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Gene Identification and Analysis, Gene Expression, medicine.disease_cause, Biochemistry, Germline, Hematologic Cancers and Related Disorders, Craniofacial Abnormalities, Exon, Database and Informatics Methods, Animal Cells, Medicine and Health Sciences, Nuclear protein, Child, Genetics (clinical), ATYPICAL CML, MYELODYSPLASTIC SYNDROME, Connective Tissue Cells, Genetics, Medicine, Nuclear Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], CLONAL HEMATOPOIESIS, Hematology, CHRONIC NEUTROPHILIC LEUKEMIA, Germline Mutation, Phenotype, 3. Good health, Cell Transformation, Neoplastic, Oncology, Connective Tissue, Child, Preschool, Hematologic Neoplasms, Female, Cellular Types, Anatomy, Neurodevelopmental disorders Radboud Institute for Molecular Life Sciences [Radboudumc 7], Hand Deformities, Congenital, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Research Article, Neuroinformatics, lcsh:QH426-470, Blotting, Western, Nails, Malformed, Protein degradation, Biology, Research and Analysis Methods, Cell Line, PROGRESSIVE BRAIN ATROPHY, 03 medical and health sciences, Germline mutation, Intellectual Disability, Leukemias, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC MYELOID-LEUKEMIA, Protein Interactions, Molecular Biology, Mutation Detection, Ecology, Evolution, Behavior and Systematics, Genetic Association Studies, Germ-Line Mutation, Cell Proliferation, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], CHILDHOOD-CANCER, Gene Expression Profiling, DISEASE PROGRESSION, Infant, Newborn, Biology and Life Sciences, Cancers and Neoplasms, Proteins, Infant, CSF3R T618I, Cell Biology, Fibroblasts, Chronic neutrophilic leukemia, Chronic myeloid-leukemia, Juvenile myelomonocytic leukemia, Progressive brain atrophy, Myelodysplastic syndrome, Clonal hematopoiesis, Disease progression, Childhood-cancer, Atypical cml, Csf3r T618i, lcsh:Genetics, 030104 developmental biology, Biological Tissue, Biological Databases, HEK293 Cells, Mutation, Mutation Databases, Cancer research, Somatic Mutation, Carcinogenesis, Carrier Proteins

وصف الملف: application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e06cd71c14234bbd4c39a6af8c3d1ffTest
http://europepmc.org/articles/PMC5386295Test

المؤلفون: Robert Smigiel, Nikolaus Blin, Józef Jagielski, David Ramsey, Maria M. Sasiadek, Tomasz Krecicki

المصدر: Molecular Carcinogenesis. 39:147-154

مصطلحات موضوعية: Cancer Research, biology, Methylation, Cell cycle, Cyclin-Dependent Kinase Inhibitor 2A, Molecular biology, Loss of heterozygosity, stomatognathic diseases, CDKN2A, Cancer cell, biology.protein, Cancer research, Immunohistochemistry, Antibody, Molecular Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::91a84a1f42c32913405696447bbb79f7Test
https://doi.org/10.1002/mc.20007Test

المؤلفون: Jerzy Czernik, Robert Smigiel, Monika Kaczmarz, Dariusz Patkowski, Karolina Pesz, Maria M. Sasiadek, Tadeusz Dobosz, Arleta Lebioda

المصدر: Journal of applied genetics. 47(3)

مصطلحات موضوعية: Genetics, Electrophoresis, Agar Gel, Proto-Oncogene Proteins c-ret, Locus (genetics), Single-nucleotide polymorphism, General Medicine, Disease, Biology, Phenotype, Molecular biology, Polymorphism, Single Nucleotide, Human genetics, Pathogenesis, Exon, Humans, Hirschsprung Disease, Poland, Gene, DNA Primers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09baafdb1a524608c929f582a65056b6Test
https://pubmed.ncbi.nlm.nih.gov/16877807Test