نتائج البحث

1

Evaluation of sexual assault evidence collection kit: Comparison of the success rate of STR analysis of swabs versus rinses

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

2

دورية أكاديمية

[Untitled]

المؤلفون: John H. J. Wokke, Eva Nelis, Peter De Jonghe, Vincent Timmerman

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://brain.oxfordjournals.org/content/early/2008/03/05/brain.awn029.full.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.335.5572Test; http://brain.oxfordjournals.org/content/early/2008/03/05/brain.awn029.full.pdfTest

الإتاحة: http://brain.oxfordjournals.org/content/early/2008/03/05/brain.awn029.full.pdfTest

View record in BASE

3

Evaluation of usefulness of further Y-STR analysis in sexual assault cases on PSA positive samples resulting in female autosomal STR profiling

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

المصدر: Forensic Science International: Genetics Supplement Series

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3d4709e4acd235e9b039727ba63ea65Test
https://hdl.handle.net/10067/1666280151162165141Test

4

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study

المصدر: Brain

مصطلحات موضوعية: Male, Genotype, HSP27 Heat-Shock Proteins, Mutation, Missense, Biology, Protein Serine-Threonine Kinases, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, GTP-Binding Protein gamma Subunits, medicine, Missense mutation, Humans, Heat-Shock Proteins, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Base Sequence, Genetic heterogeneity, Mosaicism, Chromosomes, Human, Pair 11, Haplotype, DNA Helicases, Spinal muscular atrophy, VAPB, medicine.disease, Multifunctional Enzymes, 3. Good health, Neoplasm Proteins, Pedigree, DCTN1, Electrophysiology, Phenotype, Haplotypes, Female, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery, RNA Helicases, Molecular Chaperones, Distal HMN, BSCL2, HSPB1, HSPB8, SETX, Marie-Tooth-disease, amyotrophic-lateral-sclerosis, spinal muscular-atrophy, SEIP congenital lipodystrophy, familial spastic paraplegia, RNA synthetase mutations, sensory neuron diseases, HMN type-V, Silver-syndrome, electrophysiologic findings

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6e645225795d20a3d550af3d87b80dfTest
http://doc.rero.ch/record/299093/files/awn029.pdfTest

5

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

المؤلفون: José Berciano, Jefferey M Vance, Marina L. Kennerson, Zwi N. Berneman, Antonio G. García, Peter De Jonghe, Kristl Claeys, Garth A. Nicholson, H.M.E. Bienfait, Eva Nelis, Martin Lammens, Ilse De Veuster, Elsdon Storey, Els De Vriendt, Stephan Züchner, John Merory, Kristien Verhoeven, Jonathan Baets, Vincent Timmerman

المساهمون: Other departments

المصدر: Brain, 132, Pt 7, pp. 1741-52
Brain, 132, 1741-52
Brain
Brain, 132(Part 7), 1741-1752. Oxford University Press

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05a99a97b633f60c5286746ad554cc0aTest
https://doi.org/10.1093/brain/awp115Test

6

Charcot-Marie-Tooth Disease: A Clinico-genetic Confrontation

المؤلفون: P. De Jonghe, Kristl Claeys, Eva Nelis, Ann Löfgren, Vincent Timmerman, M. Sirotković-Skerlev, Nina Barišić

المصدر: Annals of Human Genetics. 72:416-441

مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Genetic heterogeneity, Genetic counseling, Disease, Biology, Phenotype, nervous system diseases, Inherited neuropathies, Tooth disease, Molecular genetics, medicine, Gene, Neuroscience, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5fadf8003d49000ad60cf0670341b8dcTest
https://doi.org/10.1111/j.1469-1809.2007.00412.xTest

7

GDAP1 mutations in Czech families with early-onset CMT

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

8

Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy

المؤلفون: Eva Nelis, Peter Young, Anja Schirmacher, Florian Stögbauer, Phillip F. Chance, Giles D. J. Watts, G. Hünermund, J. Meuleman, Bernd Ringelstein, Gregor Kuhlenbäumer, Vincent Timmerman

المصدر: Muscle & Nerve. 29:601-604

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cbdd9ecc10a78463d0ae581a78f4a277Test
https://doi.org/10.1002/mus.20009Test

9

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

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

10

A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot–Marie–Tooth disease with irregularly folded myelin sheaths

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

المصدر: Neuromuscular disorders

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

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