المؤلفون: Polina Tsygankova, Igor Bychkov, Marina Minzhenkova, Natalia Pechatnikova, Lyudmila Bessonova, Galina Buyanova, Irina Naumchik, Nikita Beskorovainiy, Vyacheslav Tabakov, Yulia Itkis, Nadezhda Shilova, Ekaterina Zakharova

المصدر: Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100889- (2022)

مصطلحات موضوعية: Pyruvate carboxylase deficiency, Reciprocal translocations, Deep intronic variants, WES, WGS, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000490; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/3b023d91c24c4a228d7b9d0076ffc9e3

المؤلفون: Anja Weise, Konstantin A. Mosse, Natalia Rumyantseva, Irina Naumchik, Thomas Liehr, A Polityko, Olga M. Khurs, Anna I. Kulpanovich, Hasmik Mkrtchyan, Angelica V. Solntsava

المصدر: European Journal of Medical Genetics. 52:207-210

مصطلحات موضوعية: Chromosome 7 (human), Genetics, medicine.medical_specialty, Autosome, Derivative chromosome, medicine.diagnostic_test, Cytogenetics, Chromosomal translocation, Karyotype, General Medicine, Biology, medicine.disease, Turner syndrome, medicine, Genetics (clinical), Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9799f0564a2120cd7acc40ab949df476
https://doi.org/10.1016/j.ejmg.2009.03.016

المؤلفون: Eugenia Jaroshevich, Ludmila Shamgina, Lubov Podleschuk, Irina Naumchik, Olga M. Khurs, Irina Pisarik, Elena Goncharova, Oksana Pribushenya, A Polityko, Elena Abramchik, Natalia Drozdovskaja, Natalia Rumyantseva

المصدر: Journal of Histochemistry & Cytochemistry. 53:361-364

مصطلحات موضوعية: Adult, 0301 basic medicine, Pathology, medicine.medical_specialty, Histology, Isochromosome, Prenatal diagnosis, Biology, 03 medical and health sciences, Pallister–Killian syndrome, polycyclic compounds, medicine, Humans, Amniocyte, Abnormalities, Multiple, Supernumerary, Cells, Cultured, In Situ Hybridization, Fluorescence, Metaphase, Fetus, Chromosomes, Human, Pair 12, 030102 biochemistry & molecular biology, Mosaicism, Karyotype, Syndrome, Amniotic Fluid, Aneuploidy, medicine.disease, Chromosome Banding, Isochromosomes, 030104 developmental biology, Karyotyping, Cytogenetic Analysis, Tetrasomy, Female, Anatomy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e2e49a2086a461c7ad32cb32c0941d4
https://doi.org/10.1369/jhc.4a6402.2005

المؤلفون: Emel Ergul, Martina Merkas, A Polityko, Gisela Reising-Ackermann, Marianne Volleth, Anna I. Kulpanovich, Marcelo de Bello Cioffi, Markus Stumm, Alla Frolova, Isabella Simonyan, Thomas Liehr, Samarth Bhatt, Monika Ziegler, Hasmik Mkrtchyan, Isolde Schreyer, Katharina Kreskowski, Thomas Martin, Ani Grigorian, Laura R. Rodríguez, Lukretija Brecevic, Evgenia Jaroshevich, Tatiana Egorova, Svetlana G. Vorsanova, Nadezda Kosyakova, Heike Nelle, Irina Naumchik, Natalia Shorokh, Anja Weise, Marina Manvelyan, Rouben Aroutiounian, Ali Sazci, Rolf-Dieter Wegner

المصدر: Molecular Cytogenetics

مصطلحات موضوعية: Breakpoints, medicine.medical_specialty, Heterochromatin, Western Europe, Chromosome 9, Eastern Europe, Biology, Biochemistry, Dicentric chromosome, Research based, medicine, Genetics, Genetics(clinical), Heteromorphism, Molecular Biology, Genetics (clinical), Biochemistry, medical, Research, Biochemistry (medical), Breakpoint, Cytogenetics, heteromorphism, breakpoints, Human genetics, Western europe, Molecular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b88e7e616715b34c4787c77d0df549f9
https://pubmed.ncbi.nlm.nih.gov/23547710

المؤلفون: Heidemarie Neitzel, Thomas Liehr, Natalia Rumyantseva, Nadezda Kosyakova, A Polityko, Karl Sperling, Anja Weise, Irina Naumchik, Olga M. Khurs, Holger Tönnies

المصدر: Molecular Cytogenetics
Molecular Cytogenetics, Vol 3, Iss 1, p 5 (2010)

مصطلحات موضوعية: medicine.medical_specialty, lcsh:QH426-470, DNMT3B, Biology, Bioinformatics, medicine.disease_cause, Malignancy, Biochemistry, Chromosome instability, medicine, Genetics, Genetics(clinical), DNMT3B Gene, Molecular Biology, Genetics (clinical), Immunodeficiency, Biochemistry, medical, Mutation, Research, Biochemistry (medical), Cytogenetics, medicine.disease, lcsh:Genetics, Molecular Medicine, Immune disorder, human activities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::995ee20edcbd97067366d1e150153617
https://pubmed.ncbi.nlm.nih.gov/20211012

المؤلفون: Jean-Pierre Fryns, Heike Starke, Mariluce Riegel, Natalia Rumyantseva, Vladimir Trifnov, Albert Schinzel, Cindy Melotte, I Salden, Joris Vermeesch, Thomas Liehr, Irina Naumchik, A Polityko, Gert Matthijs

المصدر: European journal of medical genetics. 48(3)

مصطلحات موضوعية: Genetic Markers, Neocentromere, Isochromosome, Biology, Craniofacial Abnormalities, Pallister–Killian syndrome, Ulnar–mammary syndrome, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Small supernumerary marker chromosome, Genetics (clinical), In Situ Hybridization, Fluorescence, Oligonucleotide Array Sequence Analysis, Chromosomes, Human, Pair 12, General Medicine, Syndrome, Chromosome microdissection, medicine.disease, Aneuploidy, Molecular biology, Phenotype, Genetic marker, Tetrasomy, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::265c57adc060d7302bb7210e0365b58b
https://pubmed.ncbi.nlm.nih.gov/16179227