المؤلفون: Els Jehaes, G. Leijnen, Eva Nelis, Werner Jacobs

المصدر: Forensic Science International: Genetics Supplement Series

مصطلحات موضوعية: Veterinary medicine, business.industry, Dna concentration, Pathology and Forensic Medicine, STR Profile, stomatognathic system, STR analysis, Vaginal swabs, Genetics, Medicine, Human medicine, Evidence collection, business, Sexual assault

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::512cb837f6640f33cf1dc07e52f25589Test
https://doi.org/10.1016/j.fsigss.2019.09.117Test

المؤلفون: M. Bojar, E. Vyhnálková, Luciano Merlini, P. De Jonghe, Eva Nelis, L. Baránková, Radim Mazanec, Iva Sakmaryová, Petr Vondráček, Pavel Seeman, Stephan Züchner

المصدر: Neuromuscular disorders

مصطلحات موضوعية: Adult, Male, Adolescent, media_common.quotation_subject, Nonsense, Population, Mutation, Missense, Nerve Tissue Proteins, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Charcot-Marie-Tooth Disease, medicine, Humans, Point Mutation, Missense mutation, Age of Onset, Allele, Child, education, Allele frequency, Alleles, Genetics (clinical), Aged, Czech Republic, 030304 developmental biology, media_common, Genetics, 0303 health sciences, Mutation, education.field_of_study, Muscle Weakness, Haplotype, Middle Aged, 3. Good health, Electrophysiology, Haplotypes, Neurology, Codon, Nonsense, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Age of onset, Algorithms, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e493c694b7bd8fcf8946cb825e00aa7Test
https://doi.org/10.1016/j.nmd.2007.02.010Test

المؤلفون: Reinhard Büttner, Roman Chrast, Kathrin Huehne, Volker Straub, Claudia Stendel, Nathalie Verpoorten, Carsten Bergmann, Vincent Timmerman, Haluk Topaloglu, Sevim Erdem, Gian Maria Fabrizi, Eva Nelis, Yesim Parman, Ersin Tan, J. Michael Schröder, Nicolo' Rizzuto, Jörg Klepper, Greg Lemke, Manfred Stuhrmann, Wolfgang Müller-Felber, Jutta Kirfel, Stephan Züchner, Sabine Rudnik-Schöneborn, Andreas Hahn, Mark H.G. Verheijen, Jan Senderek, Esra Battaloglu, Peter De Jonghe, Bernd Rautenstrauss, Klaus Zerres, Eckhard Buchheim

المساهمون: Çocuk Sağlığı ve Hastalıkları

المصدر: The American journal of human genetics

مصطلحات موضوعية: Adult, Male, Adolescent, Protein family, Molecular Sequence Data, Medizin, Genes, Recessive, Locus (genetics), Biology, Compound heterozygosity, src Homology Domains, Consanguinity, Autosomal recessive trait, Charcot-Marie-Tooth Disease, SH3TC2, Genetics, medicine, Animals, Humans, Genetics(clinical), Amino Acid Sequence, RNA, Messenger, Allele, Child, Genetics (clinical), Genetics & Heredity, Base Sequence, Genome, Human, Gene Expression Profiling, Intracellular Signaling Peptides and Proteins, Infant, Proteins, Articles, Middle Aged, Disease gene identification, medicine.disease, Pedigree, Alternative Splicing, Phenotype, Haplotypes, Child, Preschool, Mutation, Chromosomes, Human, Pair 5, Female, Hereditary motor and sensory neuropathy

وصف الملف: pdf; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91c63732a349714f14456870f7804476Test
https://doi.org/10.1086/379525Test

المؤلفون: Christine Van Broeckhoven, Sevim Erdem, Ersin Tan, Ann Löfgren, Haluk Topaloglu, Vincent Timmerman, Eva Nelis, Peter De Jonghe, Chantal Ceuterick

المصدر: Neuromuscular disorders

مصطلحات موضوعية: Male, Adolescent, Turkey, Myotubularin, Mutation, Missense, Genes, Recessive, Biology, Polymerase Chain Reaction, chemistry.chemical_compound, Exon, Charcot-Marie-Tooth Disease, Humans, Coding region, Missense mutation, Child, Gene, Chromatography, High Pressure Liquid, Myelin Sheath, Genetics (clinical), Genetics, Polymorphism, Genetic, Base Sequence, Chromosomes, Human, Pair 11, Point mutation, Homozygote, Chromosome Mapping, Chromosome, Exons, Sequence Analysis, DNA, Protein Tyrosine Phosphatases, Non-Receptor, Molecular biology, Pedigree, Neurology, chemistry, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Protein Tyrosine Phosphatases, Cytosine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::728c21042f12d377d12c1736dc96e78bTest
https://doi.org/10.1016/s0960-8966Test(02)00046-9

المؤلفون: Neva E. Haites, Eva Nelis, Christine Van Broeckhoven

المصدر: Neuromuscular Disorders. 8:591-603

مصطلحات موضوعية: Genetics, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Biology, Genotype-Phenotype Correlations, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::efc6ea5ee67e2eb585c494852184d912Test
https://doi.org/10.1016/s0960-8966Test(98)00067-4

المؤلفون: Lawrence T. Reiter, Eva Nelis, Christine Van Broeckhoven, P. J. Hastings, Peter De Jonghe, James R. Lupski

المصدر: The American journal of human genetics

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, mariner-like element, Biology, Polymerase Chain Reaction, law.invention, Meiosis, Gene mapping, Hotspot, law, Charcot-Marie-Tooth Disease, Gene duplication, Genetics, Humans, Genetics(clinical), Gene conversion, Homologous recombination, Repeated sequence, Gene, Genetics (clinical), Repetitive Sequences, Nucleic Acid, Recombination, Genetic, Minimum efficient processing segments, Peripheral Nervous System Diseases, HNPP deletion, Recombinant DNA, CMT1A-REPs, Gene Deletion, Chromosomes, Human, Pair 17, Research Article

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::169d048992da87d43b0020c1e97881c1Test

المؤلفون: Laura E. Warner, Calvin Wheeler, Max J. Hilz, Christine Van Broeckhoven, Stirling Carpenter, Eva Nelis, David R. Witt, Edwin H. Kolodny, Adria Bodell, James R. Lupski, James M. Killian, Stanley H. Appel, Gordon V. Watters, George Karpati

المصدر: Neuron

مصطلحات موضوعية: Adult, Male, Genotype, Protein Conformation, Neuroscience(all), DNA Mutational Analysis, Disease, medicine.disease_cause, Cohort Studies, 03 medical and health sciences, Myelin, 0302 clinical medicine, Sural Nerve, Charcot-Marie-Tooth Disease, medicine, Humans, Point Mutation, Cloning, Molecular, Loss function, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Crystallography, business.industry, General Neuroscience, Myelin protein zero, Structural protein, medicine.disease, Phenotype, Dejerine–Sottas disease, Microscopy, Electron, medicine.anatomical_structure, Female, Hereditary Sensory and Motor Neuropathy, business, Myelin P0 Protein, 030217 neurology & neurosurgery, Demyelinating Diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c9ec748d81376d9c7bc705dc26178e7Test
https://doi.org/10.1016/s0896-6273Test(00)80177-4

المؤلفون: Vincent Timmerman, Jean-Jacques Martin, Chantal Ceuterick, Eva Nelis, Ludo Muylle, Peter Raeymaekers, Peter De Jonghe, Christine Van Broeckhoven

المصدر: Journal of the neurological sciences

مصطلحات موضوعية: Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Charcot-Marie-Tooth Disease, Genetic linkage, Humans, Medicine, Genes, Dominant, Motor Neurons, Genetics, business.industry, Cytogenetics, Chromosome, Spinal muscular atrophies, medicine.disease, SMA, Autosomal dominant form, Pedigree, nervous system diseases, Neurology, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 5, Female, Neurology (clinical), Lod Score, Hereditary Sensory and Motor Neuropathy, business, Chromosomes, Human, Pair 19, Motor neuropathy, Chromosomes, Human, Pair 17

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6620ced9e3cea0a05beb6b56b4e2a99Test
https://doi.org/10.1016/0022-510xTest(92)90091-x

المؤلفون: Melitta Schachner, Christina Fuchs, Arif B. Ekici, Eva Nelis, Rainer Hillenbrand, Christine Van Broeckhoven, Bernd Rautenstrauss

المصدر: Genetic analysis: biomolecular engineering

مصطلحات موضوعية: Genetics, Insect cell, Genotype, Myelin protein zero, Adhesion, Biology, Applied Microbiology and Biotechnology, Phenotype, Molecular biology, Paint adhesion testing, Cell Line, Rats, stomatognathic diseases, Mutation, Cell Adhesion, Animals, Immunoglobulin superfamily, Drosophila, Heterologous expression, Myelin P0 Protein, Genotype-Phenotype Correlations

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a97f122eab7204c50911a71282f4537Test
https://doi.org/10.1016/s1050-3862Test(98)00004-7

المؤلفون: Ivan Marjanovic, V. Rakocevic Stojanovic, C. Van Broeckhoven, Ana Nikolic, V. Milic Rasic, P. De Jonghe, Dragana Lavrnic, Z. Tasic, Eva Nelis

المصدر: Journal of the Neurological Sciences. 285:S333

مصطلحات موضوعية: Genetics, Neurology, business.industry, Missense mutation, Medicine, Neurology (clinical), business, Motor neuropathy, Silver syndrome, BSCL2 gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cc49fa810005edafd9add581ebda91edTest
https://doi.org/10.1016/s0022-510xTest(09)71267-5