المؤلفون: Vincent Timmerman, Christine Van Broeckhoven, Irina V. Mersiyanova, Eva Nelis, Alexandr Vladimirovich Polyakov, Elena L. Dadali, V P Fedotov, Oleg V. Evgrafov, Sookhrat M. Ismailov, Ann Löfgren

المصدر: Human Mutation. 15:340-347

مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Peripheral myelin, Chromosome, Biology, Phenotype, Nerve conduction velocity, Myelin, medicine.anatomical_structure, medicine, Tandem exon duplication, Patient group, Gene, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e423c932a0d1c7ccee6234fe8fd85bb9Test
https://doi.org/10.1002Test/(sici)1098-1004(200004)15:4<340::aid-humu6>3.0.co;2-y

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: C. Van Broeckhoven, P. De Jonghe, J.J. Martin, E. De Vriendt, Pragna Patel, Eva Nelis

المصدر: Journal of medical genetics

مصطلحات موضوعية: Male, DNA Mutational Analysis, Molecular Sequence Data, Biology, Polymerase Chain Reaction, Myelin, Exon, Charcot-Marie-Tooth Disease, Peripheral myelin protein 22, Gene duplication, Genetics, medicine, Humans, Coding region, Promoter Regions, Genetic, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), DNA Primers, Base Sequence, Exons, medicine.disease, Pedigree, medicine.anatomical_structure, Peripheral neuropathy, Mutation, Mutation testing, Female, Hereditary Sensory and Motor Neuropathy, Myelin Proteins, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ce772a69af9c03cae30a36a76b8fcefTest
https://doi.org/10.1136/jmg.35.7.590Test

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: H Backhovens, Eva Nelis, Sandra Simokovic, Ann Löfgren, Vincent Timmerman, Christine Van Broeckhoven, Jean-Jacques Martin, Peter De Jonghe

المصدر: Human mutation

مصطلحات موضوعية: Male, Genetics, education.field_of_study, Biology, Connexins, Pedigree, Charcot-Marie-Tooth Disease, Mutation, Mutation testing, Humans, Connexin 32, Female, Identification (biology), education, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef52f4399e4c911cb7b98810b83ab7a5Test
https://doi.org/10.1002Test/(sici)1098-1004(1997)9:1<47::aid-humu8>3.0.co;2-m

المؤلفون: A.A.W.M. Gabreëls-Festen, C. Van Broeckhoven, G. Levi, Hans Werner Müller, A. Schenone, M. Frank, K. Willecke, R. Martini, Vincent Timmerman, B. Rautenstrauss, R. Dermietzel, C. Schneider, N. Haites, O. Haneman, Edwin C. M. Mariman, Ueli Suter, C. Gillen, M. Schröder, Eva Nelis, M. Schachner, S. Sancho, Klaus-Armin Nave, L. Barrio, P.A. Bolhuis

المصدر: Neurobiology of disease
Neurobiology of Disease, 4, pp. 215-220
Neurobiology of Disease, 4, 3, pp. 215-220
Neurobiology of Disease, 4, 215-220
Neurobiology of Disease, Vol 4, Iss 3, Pp 215-220 (1997)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, Neuromusculaire en neurometabole aandoeningen, Transgene, Clinical description and delineation of genetic syndromes, Disease, lcsh:RC321-571, nervous system diseases, Tooth disease, Neurology, Neuromuscular and neurometabolic disorders, Molecular genetics, medicine, business, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Neuroscience, Klinische beschrijving en moleculaire definiëring van genetische syndromen, Function (biology)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d214288d0ee7fb3c76efd340caae4259Test
https://hdl.handle.net/2066/188858Test

المؤلفون: Eva Nelis, Sandra Simokovic, Vincent Timmerman, Ann Löfgren, Hubert Backhovens, Peter De Jonghe, Jean‐Jacques Martin, Christine Van Broeckhoven

المصدر: Human Mutation. 9:47-52

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5b5e7f74ee9137b8d0fb1e39928018d4Test
https://doi.org/10.1002Test/(sici)1098-1004(1997)9:1<47::aid-humu8>3.3.co;2-n

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: René Dom, C. Van Broeckhoven, Paul Theys, Eva Nelis, I. Dehaene, D. Verhalle, Ann Löfgren, Martin Lammens, Wim Robberecht

المصدر: Annals of Neurology. 35:704-708

مصطلحات موضوعية: Genetics, Pathology, medicine.medical_specialty, Autosomal dominant trait, Locus (genetics), Sural nerve, Disease, Biology, medicine.disease, Asymptomatic, Neurology, Genetic marker, medicine, Neurology (clinical), medicine.symptom, Ulnar nerve, Polyneuropathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::71a3797e3f0088cde045c6242f1bb21fTest
https://doi.org/10.1002/ana.410350611Test

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