المؤلفون: Paprocka, Justyna, Nowak, Magdalena, Nieć, Maria, Janik, Izabela, Rydzanicz, Małgorzata, Robert, Śmigiel, Klaniewska, Magdalena, Rutkowska, Karolina, Płoski, Rafał, Jezela-Stanek, Aleksandra

المصدر: Frontiers in Medicine ; volume 8 ; ISSN 2296-858X

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.3389/fmed.2021.708717Test

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: 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: Robert Smigiel, Ann Swillen, Branka Polic, Samuel Chawner, Anne M. Maillard, Adrian Harwood, Marina Mihaljevic, Beata Nowakowska, Rumen Stefanov, Paula Jorge, Louise Gallagher, Natália Oliva Teles, Sara Medved, Bernarda Lozic

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, DNA Copy Number Variations, Developmental Disabilities, Population, 030105 genetics & heredity, European, 03 medical and health sciences, Gene Frequency, Pan european, Databases, Genetic, Genetics, medicine, Humans, Medical history, In patient, Genetic Testing, Copy-number variation, Family history, education, Genetics (clinical), Psychiatric genetics, education.field_of_study, Copy number variants, Information Dissemination, Medical genetics, Neurodevelopmental disorders, General Medicine, 3. Good health, Europe, Phenotype, 030104 developmental biology, Geography, Family medicine, Research collaboration, Genome-Wide Association Study

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::391ba7a9925700aa04a08f33c2addf41Test
https://avesis.gazi.edu.tr/publication/details/dbaa50c7-c168-456b-8ca0-0f0400506171/oaiTest

المؤلفون: Dariusz Patkowski, Krystian Toczewski, Agata Dzielendziak, Robert Smigiel, A Rozensztrauch, M Bloch

المصدر: Diseases of the Esophagus. 32

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Congenital Esophageal Atresia, Fistula, Gastroenterology, Medicine, General Medicine, business, medicine.disease, Surgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::027ef30e65306693d8d8e08d83a6e87eTest
https://doi.org/10.1093/dote/doz047.58Test

المؤلفون: Robert Smigiel, Hirofumi Kodera, Naomichi Matsumoto, Maria M. Sasiadek, Marek Sasiadek, Hirotomo Saitsu, Aleksandra Jakubiak, Magdalena Cabała

المصدر: Birth Defects Research Part A: Clinical and Molecular Teratology. 106:304-307

مصطلحات موضوعية: 0301 basic medicine, Proband, Embryology, Microcephaly, Pathology, medicine.medical_specialty, Parvovirus, Congenital cytomegalovirus infection, General Medicine, Biology, medicine.disease, biology.organism_classification, Rubella, Toxoplasmosis, 03 medical and health sciences, Epilepsy, 030104 developmental biology, 0302 clinical medicine, Schizencephaly, Pediatrics, Perinatology and Child Health, medicine, 030217 neurology & neurosurgery, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5b20f3631fdcb4d5c0dea80071397d9cTest
https://doi.org/10.1002/bdra.23488Test

المؤلفون: Aleksander Jamsheer, Aleksandra Jakubiak, Stefan Mundlos, Robert Smigiel, Magdalena Socha, Tomasz Zemojtel, Peter N. Robinson

المصدر: Birth Defects Research Part A : Clinical and Molecular Teratology

مصطلحات موضوعية: Adult, Male, Proband, Embryology, Connective Tissue Disorder, Pathology, medicine.medical_specialty, Nonsense-mediated decay, Nonsense mutation, Genes, Recessive, Biology, medicine.disease_cause, Exon, symbols.namesake, INDEL Mutation, Genes, X-Linked, medicine, Humans, X-linked recessive inheritance, Genetics, Sanger sequencing, Mutation, Genetic Diseases, X-Linked, Exons, General Medicine, Metacarpal Bones, Fibroblast Growth Factors, Pediatrics, Perinatology and Child Health, symbols, Female, Hand Deformities, Congenital, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bc35367aec2a8bd78571baf5e48b654Test
https://doi.org/10.1002/bdra.23239Test

المؤلفون: Damian Bednarczyk, Piotr Czauderna, Aleksandra Jakubiak, Dariusz Patkowski, K. Korecka, M. Blaszczyński, Robert Smigiel, H. Maciejewski, Wojciech Korlacki, Maria M. Sasiadek, P. Wizinska, Arleta Lebioda

المصدر: Diseases of the Esophagus. 28:229-233

مصطلحات موضوعية: Pathology, medicine.medical_specialty, biology, Gastroenterology, Wnt signaling pathway, General Medicine, Hedgehog signaling pathway, Gene expression profiling, GLI1, GLI2, embryonic structures, GLI3, Gene expression, biology.protein, Cancer research, medicine, Sonic hedgehog

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eb5c292f9bc59af5428c08bc22b7bf8aTest
https://doi.org/10.1111/dote.12173Test

المؤلفون: Robert Smigiel, Magdalena Cabała, Servi J. C. Stevens

المساهمون: Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, MUMC+: DA Pat Cytologie (9)

المصدر: Clinical Dysmorphology, 22(4), 146-148. LIPPINCOTT WILLIAMS & WILKINS

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Microcephaly, Limb defects, Limb Deformities, Congenital, Pathology and Forensic Medicine, Intellectual Disability, Intellectual disability, Humans, Medicine, Language Development Disorders, Syndactyly, Growth Disorders, Genetics (clinical), business.industry, Facies, General Medicine, medicine.disease, Filippi syndrome, Child, Preschool, Karyotyping, Pediatrics, Perinatology and Child Health, Anatomy, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb9e12e638acbd32bd840438df0eb3ebTest
https://doi.org/10.1097/mcd.0b013e3283645a30Test

المؤلفون: Mohamed A. Hassan, Markus Pfister, Aftab Ali Shah, Elżbieta Szmida, Andreas Bress, Robert Smigiel, Maria M. Sasiadek, Nikolaus Blin

المصدر: Journal of applied genetics. 56(3)

مصطلحات موضوعية: Male, Models, Molecular, Hearing loss, DNA Mutational Analysis, Single-nucleotide polymorphism, Biology, Bioinformatics, medicine.disease_cause, Polymorphism, Single Nucleotide, Connexins, symbols.namesake, otorhinolaryngologic diseases, Genetics, medicine, Missense mutation, SNP, Humans, Hearing Loss, Sanger sequencing, Mutation, Membrane Proteins, General Medicine, Exons, Human genetics, Pedigree, Connexin 26, Hearing level, Amino Acid Substitution, symbols, Female, Poland, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c483746dcc04690220156830bdac32fTest
https://pubmed.ncbi.nlm.nih.gov/25560804Test