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71
المؤلفون: Emilia Bellone, Franco Ajmar, Christine Van Broeckhoven, Gianluigi Mancardi, Angelo Schenone, Eva Nelis, Rosella James, Paola Mandich, Michele Abbruzzese
المصدر: Neuroscience letters
مصطلحات موضوعية: Electrophoresis, Pathology, medicine.medical_specialty, Mutation, business.industry, General Neuroscience, Myelin outfoldings, medicine.disease, medicine.disease_cause, Central nervous system disease, Myelin, Degenerative disease, medicine.anatomical_structure, Sural Nerve, Charcot-Marie-Tooth Disease, Gene duplication, medicine, Humans, Human medicine, Motor Neuron Disease, business, Hereditary motor and sensory neuropathy, Neuroscience, Polyneuropathy, Myelin Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b37a5acda26cb69b418057a06c9f8ddTest
https://hdl.handle.net/10067/113110151162165141Test -
72
المؤلفون: Antoon Vandenberghe, Eva Nelis, André Dautigny, Christine Van Broeckhoven, Jean-Jacques Martin, Peter De Jonghe, Vincent Timmerman, Danielle Pham-Dinh
المصدر: Human genetics
مصطلحات موضوعية: Silent mutation, Genetics, Polymorphism, Genetic, Base Sequence, Myelin protein zero, Nonsense mutation, Molecular Sequence Data, Biology, Molecular biology, Exon, Charcot-Marie-Tooth Disease, Peripheral myelin protein 22, Gene duplication, Mutation, Missense mutation, Humans, Human medicine, Gene, Myelin P0 Protein, Genetics (clinical), Myelin Proteins, Polymorphism, Single-Stranded Conformational
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77fbbc8991b147fbb2cd9e5c697b6b7aTest
https://pubmed.ncbi.nlm.nih.gov/7527371Test -
73
المؤلفون: B Holmberg, C. Van Broeckhoven, B Westerberg, Eva Nelis, Gösta Holmgren
المصدر: Journal of medical genetics
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Mutational Analysis, Genes, Recessive, Pedigree chart, Disease, Biology, stomatognathic system, Charcot-Marie-Tooth Disease, Gene duplication, Genetics, medicine, Humans, Child, Gene, Genetics (clinical), Aged, Genes, Dominant, Sweden, Molecular Epidemiology, Molecular epidemiology, Chromosome, Middle Aged, medicine.disease, Pedigree, stomatognathic diseases, Multigene Family, Female, Hereditary motor and sensory neuropathy, Research Article, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49050bf66b5313cb4c20a94880cabf30Test
https://hdl.handle.net/10067/82650151162165141Test -
74
المؤلفون: P. De Jonghe, J. J. Martin, Vincent Timmerman, Ludo Muylle, C. Van Broeckhoven, Eva Nelis
المصدر: Journal of medical genetics
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, Cell Adhesion Molecules, Neuronal, DNA Mutational Analysis, Molecular Sequence Data, Biology, Polymerase Chain Reaction, Exon, Charcot-Marie-Tooth Disease, Gene duplication, Genetics, medicine, Humans, Point Mutation, Genetics (clinical), DNA Primers, Base Sequence, Point mutation, Chromosome Mapping, DNA, Exons, medicine.disease, Pedigree, Charcot-Marie-Tooth Disease Type 1B, Blotting, Southern, Chromosomes, Human, Pair 1, Mutation (genetic algorithm), Mutation testing, Female, Hereditary motor and sensory neuropathy, Myelin P0 Protein, Myelin Proteins, Research Article, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78d029ad5580d9ad4baf53e10d1574c5Test
https://hdl.handle.net/10067/82750151162165141Test -
75
المؤلفون: Juan J. Vílchez, Christine Van Broeckhoven, Ann Löfgren, Eva Nelis, Sylvia Bort, Félix Prieto, Teresa Sevilla, Jean-Jacques Martin, Peter De Jonghe, Francisco Palau
المصدر: Human molecular genetics
HUMAN MOLECULAR GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instnameمصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Unequal crossing over, Sister chromatid exchange, Biology, Chromatids, Polymerase Chain Reaction, Fathers, Meiosis, Charcot-Marie-Tooth Disease, Gene duplication, Genetics, Humans, Spermatogenesis, Molecular Biology, Genetics (clinical), Chromosome, Chromosome Mapping, General Medicine, DNA, Charcot-Marie-Tooth Disease Type 1A, Pedigree, Blotting, Southern, Multigene Family, Mutation (genetic algorithm), Mutation, Chromatid, Female, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc4e3f0e15a49907ac9305e731fc3f4Test
https://hdl.handle.net/10067/53470151162165141Test -
76
المؤلفون: Robin J. Leach, Jeffery M. Vance, S. Wang, Bart W. Nieuwenhuijsen, K.L. Chen, K. Ben Othman, Eva Nelis, C. Van Broeckhoven, Bryan R. Cullen, G.J.B. van Ommen, Peter Raeymaekers, Vincent Timmerman, Clemens Oliver Hanemann, Hans Werner Müller, J. J. Martin, W. Van Hui, Kenneth H. Fischbeck, P. De Jonghe
المصدر: Nature genetics
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Molecular Sequence Data, Biology, Charcot-Marie-Tooth Disease, Peripheral myelin protein 22, Gene duplication, Genetics, Humans, Gene, Base Sequence, Genetic heterogeneity, Peripheral hypomyelination, Point mutation, Chromosome Mapping, DNA, Trembler, biology.organism_classification, Charcot-Marie-Tooth Disease Type 1A, Molecular biology, Pedigree, Multigene Family, Female, Myelin Proteins, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e82f80e92ce91cbececce6697650b125Test
https://pubmed.ncbi.nlm.nih.gov/1303230Test -
77
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 -
78
المؤلفون: Jelena Mladenović, Eva Nelis, M. Keckarevic, J. Nikodinovic, V. Milic Rasic, S. Todorovic
المصدر: Clinical Neurophysiology. 119:S110
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neurology, Hereditary neuropathies, business.industry, Physiology (medical), Medicine, In patient, Neurology (clinical), business, Value (mathematics), Sensory Systems
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::24e178acff3f54209a258906b2b00f4eTest
https://doi.org/10.1016/s1388-2457Test(08)60426-5 -
79
المؤلفون: Aldo Quattrone, Nisrine Bissar-Tadmouri, Vincent Timmerman, Jan Senderek, Eva Nelis, Elena L. Dadali, P. De Jonghe, Jeffery M. Vance, Oleg V. Evgrafov, Julie M. Rochelle, Margaret A. Pericak-Vance, Alexander V. Polyakov, Shoji Tsuji, J. M. Schröder, Irina V. Mersiyanova, Alessandra Patitucci, Stephan Züchner, Mario Zappia, E Battologlu, Yuji Takahashi, Yesim Parman, Maria Muglia
المصدر: Nature Genetics. 36:660-660
مصطلحات موضوعية: Genetics, Mitofusin-2, GTPase, Biology, Spelling
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::61ed3e71effbf9b5a8eff72f7f7881cfTest
https://doi.org/10.1038/ng0604-660Test -
80
المؤلفون: Bernd Rautenstrauss, Van Broeckhoven C, H. Grehl, Pfeiffer Ra, Eva Nelis
المصدر: Human Molecular Genetics. 3:1701-1702
مصطلحات موضوعية: DEJERINE-SOTTAS SYNDROME, Genetics, Mutation (genetic algorithm), Base sequence, General Medicine, Biology, Molecular Biology, Phenotype, Myelin P0 Protein, Genetics (clinical), Insertional mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2dfd315fcae28a1e1aaa7bde2ba80819Test
https://doi.org/10.1093/hmg/3.9.1701Test