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المؤلفون: Maike F, Dohrn, Adriana P, Rebelo, Siddharth, Srivastava, Gerarda, Cappuccio, Robert, Smigiel, Alka, Malhotra, Donald, Basel, Ingrid, van de Laar, Rinze Frederik, Neuteboom, Coranne, Aarts-Tesselaar, Sonal, Mahida, Nicola, Brunetti-Pierri, Ryan J, Taft, Stephan, Züchner
المصدر: Neurology
مصطلحات موضوعية: Phenotype, Intellectual Disability, Migraine with Aura, Mutation, Clinical/Scientific Note, Humans, Syndrome, Sodium-Potassium-Exchanging ATPase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::fc8b88f78f8bfaa82c69fc31cda08c37Test
https://pubmed.ncbi.nlm.nih.gov/35110381Test -
52دورية أكاديمية
المؤلفون: Daiva Gorczyca, Jolanta Węgłowska, Anna Prescha, Zdzisław Woźniak, Dominika Nesteruk, Katarzyna Wertheim-Tysarowska, Robert Śmigiel
المصدر: Acta Dermatovenerologica Croatica; Vol.23 No.1; ISSN 1330-027X (Print); ISSN 1847-6538 (Online)
مصطلحات موضوعية: acral peeling skin syndrome, children, hypercalciuria
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53دورية أكاديمية
المؤلفون: Katarzyna A. Maścianica, Robert Śmigiel, Dariusz Patkowski
المصدر: Journal of Pediatric Surgery Case Reports, Vol 3, Iss 11, Pp 473-475 (2015)
مصطلحات موضوعية: Harlequin phenomenon, Thoracoscopy, Esophageal atresia, Pediatrics, RJ1-570, Surgery, RD1-811
العلاقة: http://www.sciencedirect.com/science/article/pii/S2213576615000962Test; https://doaj.org/toc/2213-5766Test; https://doaj.org/article/a46ba3f95e9c4bb1b83023fb453f4c91Test
الإتاحة: https://doi.org/10.1016/j.epsc.2015.07.007Test
https://doaj.org/article/a46ba3f95e9c4bb1b83023fb453f4c91Test -
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المؤلفون: Justyna Paprocka, Maria M. Sasiadek, Małgorzata Rydzanicz, Robert Smigiel, Mateusz Biela, Agnieszka Pollak, Rafał Płoski, Magdalena Klaniewska, Monika Gos, Ewelina Wolańska, Maria Jędrzejowska, Emilia Dębek
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)مصطلحات موضوعية: 0301 basic medicine, Proband, Pediatrics, medicine.medical_specialty, media_common.quotation_subject, Nonsense, Case Report, QH426-470, 030105 genetics & heredity, DAIPT, Compound heterozygosity, arthrogryposis, Frameshift mutation, 03 medical and health sciences, Genetics, medicine, Genetics (clinical), Exome sequencing, media_common, Arthrogryposis, impaired proprioception and touch, business.industry, heterozygous mutation, medicine.disease, 030104 developmental biology, Dysplasia, Molecular Medicine, PIEZO2, Congenital contracture, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d9d6b890c292c80e4a8d0fb6350b356Test
https://doi.org/10.3389/fgene.2021.620752Test -
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المؤلفون: Robert Smigiel, Rafał Płoski, Ewa Obersztyn, Mateusz Dawidziuk, Monika Bekiesińska-Figatowska, Małgorzata Rydzanicz, Pawel Gawlinski, Ryszard Slezak, Wojciech Wiszniewski, Agnieszka Pollak
المصدر: Genes
Genes, Vol 12, Iss 594, p 594 (2021)
Volume 12
Issue 4مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Microcephaly, Genotype, Cell Cycle Proteins, Nerve Tissue Proteins, Disease, QH426-470, Compound heterozygosity, Article, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, Genetics, Humans, Medicine, microcephaly, Gene, Genetics (clinical), ATRX, business.industry, WDR62 gene, Infant, Newborn, Infant, medicine.disease, Phenotype, Pedigree, Malformations of Cortical Development, MCPH2, 030104 developmental biology, intellectual disability, Mutation, Female, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::846490a642c7cf4bbff6d91b9eb94046Test
http://europepmc.org/articles/PMC8072659Test -
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المؤلفون: Anuja Lipsa, Inaki Irastorza, Elif Yilmaz Gulec, Elżbieta Szmida, Robert Smigiel, Gisèle Bonne, Mireille COSSEE, Tirso Pons, Edward Wylęgała, Joanne Kotelawala, Cristian Pattaro, Ihssane El Bouchikhi, Anna Doraczynska-Kowalik, Filip Van Nieuwerburgh, Maria Sasiadek, Vasudha Mishra, Ryszard Ślęzak, Eugenio Ferro, Mariana Santos, Nadezda Shilova, Joanna Kozłowska, Nurhuda Mohamad Ansor
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: 0106 biological sciences, 0303 health sciences, Pediatrics, medicine.medical_specialty, Abstracts Collection, business.industry, medicine.disease, 010603 evolutionary biology, 01 natural sciences, Fabry disease, 03 medical and health sciences, Genetics, medicine, business, Genetics (clinical), 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0afdb046a905c5efb2a5867e604e8624Test
https://doi.org/10.1038/s41431-019-0404-7Test -
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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/ddy277Testمصطلحات 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 -
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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 -
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المؤلفون: Anna Hogendorf (11715932), Maciej Zieliński (3404918), Maria Constantinou (6844499), Robert Śmigiel (11715935), Jolanta Wierzba (4371718), Krystyna Wyka (3404936), Anna Wędrychowicz (11715938), Anna Jakubiuk-Tomaszuk (11031921), Edyta Budzynska (11715941), Malgorzata Piotrowicz (11715944), Beata S. Lipska-Ziętkiewicz (4347739), Ewa Kaczorowska (2326129), Agata Cieślikowska (11715947), Anna Kutkowska-Kaźmierczak (11715950), Jolanta Fijak-Moskal (11715953), Monika Kugaudo (11715956), Małgorzata Kosińska-Urbańska (11715959), Agnieszka Szadkowska (3404909), Maciej Borowiec (517149), Maciej Niedźwiecki (11715962), Piotr Trzonkowski (439536), Wojciech Młynarski (3404939)
مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, 18q deletion syndrome, immune deficiency, type 1 diabetes, autoimmune diseases, thyroiditis, T regulatory cells, antibody deficiency
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المؤلفون: Anna Hogendorf (11715932), Maciej Zieliński (3404918), Maria Constantinou (6844499), Robert Śmigiel (11715935), Jolanta Wierzba (4371718), Krystyna Wyka (3404936), Anna Wędrychowicz (11715938), Anna Jakubiuk-Tomaszuk (11031921), Edyta Budzynska (11715941), Malgorzata Piotrowicz (11715944), Beata S. Lipska-Ziętkiewicz (4347739), Ewa Kaczorowska (2326129), Agata Cieślikowska (11715947), Anna Kutkowska-Kaźmierczak (11715950), Jolanta Fijak-Moskal (11715953), Monika Kugaudo (11715956), Małgorzata Kosińska-Urbańska (11715959), Agnieszka Szadkowska (3404909), Maciej Borowiec (517149), Maciej Niedźwiecki (11715962), Piotr Trzonkowski (439536), Wojciech Młynarski (3404939)
مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, 18q deletion syndrome, immune deficiency, type 1 diabetes, autoimmune diseases, thyroiditis, T regulatory cells, antibody deficiency