المؤلفون: Wooi F. Lim, Richard I. Morimoto, Kenneth H. Fischbeck, Carolina Courage, Forouhan M, Ingo Helbig, Janel O. Johnson, Angelucci F, Laura C. Bott, Ruth Ellerington, Federico Zara, Maria Lieto, Francesco Brancati, Nemeth Ah, Mikko Muona, Matthew J.A. Wood, Pasquale Striano, Alfina A Speciale, Chiara Criscuolo, David Chitayat, Ambre Sala, Samuel F. Berkovic, A. Filla, Carlo Rinaldi, A E Lehesjoki

مصطلحات موضوعية: Genetics, 0303 health sciences, Mutation, Ataxia, Endosome, Autophagy, Progressive myoclonus epilepsy, Biology, medicine.disease_cause, medicine.disease, Phenotype, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, Missense mutation, medicine.symptom, 030217 neurology & neurosurgery, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::18dddc04cd85202f8a01172ada191fa0
https://doi.org/10.1101/2021.06.01.21257500

المؤلفون: M Sav, K Avela, N Weerasekera, B Corm, M-l Hirvioja, S Riikonen, O Ylikorkala, A-e Lehesjoki, C Williamson, K Aittomäki

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.ub.edu/geneticaclasses/brucormand/pdfs/26.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.376.991; http://www.ub.edu/geneticaclasses/brucormand/pdfs/26.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.376.991
http://www.ub.edu/geneticaclasses/brucormand/pdfs/26.pdf

المؤلفون: C. Aiello, N. Cannelli, J. D. Cooper, M. Haltia, R. Herva, U. Lahtinen, A. E. Lehesjoki, S. E. Mole, F. M. Santorelli, E. Siintola, SIMONATI, Alessandro

المساهمون: S.E. Mole, H. Goebel, R. Williams, C., Aiello, N., Cannelli, J. D., Cooper, M., Haltia, R., Herva, U., Lahtinen, A. E., Lehesjoki, S. E., Mole, F. M., Santorelli, E., Siintola, Simonati, Alessandro

مصطلحات موضوعية: Protein CLN8, CLN8 gene, neuronal ceroid lipofuscinoses

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/isbn/9780199590018; ispartofbook:The neuronal ceroid lipofuscinoses (Batten disease); firstpage:189; lastpage:202; numberofpages:14; alleditors:S.E. Mole, H. Goebel, R. Williams; http://hdl.handle.net/11562/364166

الاتاحة: http://hdl.handle.net/11562/364166

المؤلفون: Martin Täll, R. Wilska, A E Lehesjoki, S. Markkinen, Tero Kivelä, Virpi Raivio, Juha Pekka Turunen

المصدر: Acta Ophthalmologica. 94

مصطلحات موضوعية: Ophthalmology, BAP1, Germline mutation, business.industry, Melanoma, Cancer research, Medicine, Cancer, General Medicine, Family history, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7222c041cca4fa3aa6319e7c2ff73771
https://doi.org/10.1111/j.1755-3768.2016.0384

المؤلفون: A E Lehesjoki, Vesa Rasi, A. de la Chapelle

المصدر: Clinical Genetics. 38:187-197

مصطلحات موضوعية: Male, Linkage disequilibrium, TaqI, Genetic Linkage, Population, Genetic Carrier Screening, Prenatal diagnosis, Hemophilia B, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Gene Frequency, Risk Factors, Polymorphism (computer science), Prenatal Diagnosis, Genetics, Humans, Medicine, education, Allele frequency, Finland, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, business.industry, Pedigree, Genetics, Population, chemistry, 030220 oncology & carcinogenesis, Female, Restriction fragment length polymorphism, DNA Probes, business, Polymorphism, Restriction Fragment Length

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f4f7ed4ae08cba9d83e217782b4f475
https://doi.org/10.1111/j.1399-0004.1990.tb03570.x

المؤلفون: R. S. Møller, Y. G. Weber, L. L. Klitten, H. Trucks, H. Muhle, W. S. Kunz, H. C. Mefford, A. Franke, M. Kautza, P. Wolf, D. Dennig, S. Schreiber, I. M. Rückert, H. E. Wichmann, J. P. Ernst, C. Schurmann, H. J. Grabe, N. Tommerup, U. Stephani, H. Lerche, H. Hjalgrim, I. Helbig, T. Sander, F. Zimprich, M. Mörzinger, M. Feucht, A. Suls, S. Weckhuysen, L. Claes, L. Deprez, K. Smets, T. Van Dyck, T. Deconinck, P. De Jonghe, R. Velizarova, P. Dimova, M. Radionova, I. Tournev, D. Kancheva, R. Kaneva, A. Jordanova, D. B. Kjelgaard, A. E. Lehesjoki, A. Siren, S. Baulac, E. Leguern, S. Von Spiczak, P. Ostertag, M. Leber, C. Leu, M. R. Toliat, P. Nürnberg, A. Hempelmann, F. Rüschendorf, C. E. Elger, A. A. Kleefuß Lie, R. Surges, V. Gaus, D. Janz, B. Schmitz, K. M. Klein, P. S. Reif, W. H. Oertel, H. M. Hamer, F. Rosenow, F. Becker, C. Marini, R. Guerrini, D. Mei, V. Norci, F. Zara, P. Striano, A. Robbiano, M. Pezzella, A. Bianchi, A. Gambardella, P. Tinuper, A. La Neve, G. Capovilla, P. Vigliano, G. Crichiutti, F. Vanadia, A. Coppola, S. Striano, M. T. Giallonardo, S. Franceschetti, V. Belcastro, P. Benna, G. Coppola, A. De Palo, E. Ferlazzo, M. Vecchi, V. Martinelli, F. Bisulli, F. Beccaria, E. Del Giudice, M. Mancardi, G. Stranci, A. Scabar, G. Gobbi, I. Giordano, B. P. C. Koeleman, C. De Kovel, D. Lindhout, G. J. De Haan, U. Ozbeck, N. Bebek, B. Baykan, O. Ozdemir, S. Ugur, E. Kocasoy Orhan, E. Yücesan, N. Cine, A. Gokyigit, C. Gurses, G. Gul, Z. Yapici, C. Ozkara, H. Caglayan, O. Yalcin, D. Yalcin, D. Turkdogan, G. Dizdarer, K. Agan, A. Vignoli

المساهمون: R.S. Møller, Y.G. Weber, L.L. Klitten, H. Truck, H. Muhle, W.S. Kunz, H.C. Mefford, A. Franke, M. Kautza, P. Wolf, D. Dennig, S. Schreiber, I.-M. Rückert, H.-E. Wichmann, J.P. Ernst, C. Schurmann, H.J. Grabe, N. Tommerup, U. Stephani, H. Lerche, H. Hjalgrim, I. Helbig, T. Sander, F. Zimprich, M. Mörzinger, M. Feucht, A. Sul, S. Weckhuysen, L. Clae, L. Deprez, K. Smet, T. Van Dyck, T. Deconinck, P. De Jonghe, R. Velizarova, P. Dimova, M. Radionova, I. Tournev, D. Kancheva, R. Kaneva, A. Jordanova, D.B. Kjelgaard, A.-E. Lehesjoki, A. Siren, S. Baulac, E. Leguern, S. Von Spiczak, P. Ostertag, M. Leber, C. Leu, M.R. Toliat, P. Nürnberg, A. Hempelmann, F. Rüschendorf, C.E. Elger, A.A. Kleefuß-Lie, R. Surge, V. Gau, D. Janz, B. Schmitz, K.M. Klein, P.S. Reif, W.H. Oertel, H.M. Hamer, F. Rosenow, F. Becker, C. Marini, R. Guerrini, D. Mei, V. Norci, F. Zara, P. Striano, A. Robbiano, M. Pezzella, A. Bianchi, A. Gambardella, P. Tinuper, A. La Neve, G. Capovilla, P. Vigliano, G. Crichiutti, F. Vanadia, A. Vignoli, A. Coppola, S. Striano, M.T. Giallonardo, S. Franceschetti, V. Belcastro, P. Benna, G. Coppola, A. De Palo, E. Ferlazzo, M. Vecchi, V. Martinelli, F. Bisulli, F. Beccaria, E. Del Giudice, M. Mancardi, G. Stranci, A. Scabar

مصطلحات موضوعية: Adult, Age of Onset, Anticonvulsants, Case-Control Studies, Cell Adhesion Molecules, Neuronal, DNA Copy Number Variations, Electroencephalography, Epilepsy, Generalized, Exons, Family, Female, Fructose, Gene Deletion, Genotype, Human, Infant, Male, Microarray Analysis, Middle Aged, Nerve Tissue Proteins, Neuropsychological Tests, Odds Ratio, Pedigree, Triazines, Valproic Acid, Settore MED/39 - Neuropsichiatria Infantile, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/23294455; info:eu-repo/semantics/altIdentifier/wos/WOS:000314750200008; volume:54; issue:2; firstpage:256; lastpage:264; numberofpages:9; journal:EPILEPSIA; http://hdl.handle.net/2434/223765; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84978024392

الاتاحة: http://hdl.handle.net/2434/223765
https://doi.org/10.1111/epi.12078

المؤلفون: Epicure Consortium, C. Leu, C. G. F. De Kovel, F. Zara, P. Striano, M. Pezzella, A. Robbiano, A. Bianchi, F. Bisulli, A. Coppola, F. Beccaria, D. K. N. Trenite, D. Lindhout, V. Gaus, B. Schmitz, D. Janz, Y. G. Weber, F. Becker, H. Lerche, A. A. Kleefuss Lie, K. Hallman, W. S. Kunz, C. E. Elger, H. Muhle, U. Stephani, R. S. Møller, H. Hjalgrim, S. Mullen, I. E. Scheffer, S. F. Berkovic, K. V. Everett, M. R. Gardiner, C. Marini, R. Guerrini, A. E. Lehesjoki, A. Siren, R. Nabbout, S. Baulac, E. Leguern, J. M. Serratosa, F. Rosenow, M. Feucht, I. Unterberger, A. Covanis, A. Suls, S. Weckhuysen, R. Kaneva, H. Caglayan, D. Turkdogan, B. Baykan, N. Bebek, U. Ozbek, A. Hempelmann, H. Schulz, F. Ruschendorf, H. Trucks, P. Nurnberg, G. Avanzini, B. P. C. Koeleman, T. Sander, GIALLONARDO, Anna Teresa

المساهمون: Epicure, Consortium, C., Leu, C. G. F., De Kovel, F., Zara, P., Striano, M., Pezzella, A., Robbiano, A., Bianchi, F., Bisulli, A., Coppola, Giallonardo, Anna Teresa, F., Beccaria, D. K. N., Trenite, D., Lindhout, V., Gau, B., Schmitz, D., Janz, Y. G., Weber, F., Becker, H., Lerche, A. A., Kleefuss Lie, K., Hallman, W. S., Kunz, C. E., Elger, H., Muhle, U., Stephani, R. S., Møller, H., Hjalgrim, S., Mullen, I. E., Scheffer, S. F., Berkovic, K. V., Everett, M. R., Gardiner, C., Marini, R., Guerrini, A. E., Lehesjoki, A., Siren, R., Nabbout, S., Baulac, E., Leguern, J. M., Serratosa, F., Rosenow, M., Feucht, I., Unterberger, A., Covani, A., Sul, S., Weckhuysen, R., Kaneva, H., Caglayan, D., Turkdogan, B., Baykan, N., Bebek, U., Ozbek, A., Hempelmann, H., Schulz, F., Ruschendorf, H., Truck, P., Nurnberg, G., Avanzini, B. P. C., Koeleman, T., Sander

مصطلحات موضوعية: absence seizure, linkage analysi, genetic generalized epilepsy, myoclonic seizure, complex inheritance

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/22242659; info:eu-repo/semantics/altIdentifier/wos/WOS:000299546100017; volume:53; issue:2; firstpage:308; lastpage:318; numberofpages:11; journal:EPILEPSIA; http://hdl.handle.net/11573/442818; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84856357672

الاتاحة: http://hdl.handle.net/11573/442818
https://doi.org/10.1111/j.1528-1167.2011.03379.x

المؤلفون: R. Wilska, A E Lehesjoki, M Täll, Mikko Muona, Virpi Raivio, Tero Kivelä, S Lindh, S. Markkinen, J Turunen

المصدر: Acta Ophthalmologica. 92

مصطلحات موضوعية: Genetics, Oncology, medicine.medical_specialty, BAP1, Mutation, Melanoma, Cancer, General Medicine, Biology, medicine.disease, medicine.disease_cause, 3. Good health, Frameshift mutation, Ophthalmology, Exon, Germline mutation, Internal medicine, medicine, Insertion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3b6a394acc23fe3fbf9085a98f37c35e
https://doi.org/10.1111/j.1755-3768.2014.4242.x

المؤلفون: T, Gasser, M, Dichgans, J, Finsterer, I, Hausmanowa-Petrusewicz, K, Jurkat-Rott, T, Klopstock, E, LeGuern, A E, Lehesjoki, F, Lehmann-Horn, T, Lynch, H, Morris, M, Rossor, O K, Steinlein, N, Wood, J, Zaremba, M, Zeviani, A, Zoharn

المصدر: European Journal of Neurology. 8:299-314

مصطلحات موضوعية: DNA-testing, Genetics, Inherited neurologic disorders, Molecular genetic diagnosis, Mutation, Genetic Testing, Humans, Nervous System Diseases, Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bad9544ee430e552ae8b56f8e302150d
https://doi.org/10.1046/j.1468-1331.2001.00226.x

المؤلفون: Pirkko Santavuori, Helena Pihko, A E Lehesjoki, Leena Valanne, M. Bayes, Ruth Gershoni-Baruch, A. Ahmad, William B. Dobyns, Beril Talim, Haluk Topaloglu, Han G. Brunner, Thomas Voit, Bru Cormand, J.H.L.M. van Bokhoven

المصدر: Neurology, 56, 8, pp. 1059-69
ResearcherID
Neurology, 56, 1059-69
Scopus-Elsevier

مصطلحات موضوعية: Male, Adolescent, Genotype, Genetic Linkage, Elucidation of hereditary disorders and their molecular diagnosis, Locus (genetics), Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Genetic linkage, Fukuyama congenital muscular dystrophy, Medicine, Humans, Eye Abnormalities, Allele, Muscular dystrophy, Walker–Warburg syndrome, Child, 030304 developmental biology, Genetics, 0303 health sciences, Chi-Square Distribution, business.industry, Genetic heterogeneity, Brain, Infant, Eye Diseases, Hereditary, medicine.disease, 3. Good health, Pedigree, Phenotype, Haplotypes, Chromosomes, Human, Pair 1, Child, Preschool, Congenital muscular dystrophy, Female, Neurology (clinical), Lod Score, business, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek, Dandy-Walker Syndrome, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac996cc8e839ad0c2094aa985ddee06
https://hdl.handle.net/2066/186761

المؤلفون: A.-E. Lehesjoki

المصدر: Acta Neurologica Scandinavica. 102:5-52

مصطلحات موضوعية: Involuntary movement, 0303 health sciences, General Medicine, Neurological disorder, medicine.disease, Central nervous system disease, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Neurology, medicine, Neurology (clinical), medicine.symptom, Psychology, Myoclonus, Neuroscience, 030217 neurology & neurosurgery, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c671a37dbbc842614927233d9eaf12e1
https://doi.org/10.1034/j.1600-0404.2000.00202-13.x

المؤلفون: S. Ranta, A.-E. Lehesjoki

المصدر: Neurological Sciences. 21:S43-S47

مصطلحات موضوعية: medicine.medical_specialty, Neurology, Mutant, Dermatology, Biology, Homology (biology), Mice, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Intellectual Disability, medicine, Animals, Humans, Gene, 030304 developmental biology, Genetics, 0303 health sciences, Infant, General Medicine, medicine.disease, Transmembrane protein, Disease Models, Animal, Psychiatry and Mental health, CLN8, Child, Preschool, Epilepsy, Generalized, Neuronal ceroid lipofuscinosis, Neurology (clinical), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::362c6cba4457c103572de092d7048195
https://doi.org/10.1007/s100720070039

المؤلفون: G. Coppola, C. Criscuolo, G. D. Michele, F. Barbieri, P. Striano, A. Perretti, L. Santoro, V. B. Morra, SACCA', FRANCESCO, V. Scarano, A. P. D'Adamo, S. Banfi, P. Gasparini, F. M. Santorelli, A. E. Lehesjoki, FILLA, ALESSANDRO, STRIANO, SALVATORE

المساهمون: G., Coppola, C., Criscuolo, Michele, G. D., Striano, Salvatore, F., Barbieri, P., Striano, A., Perretti, L., Santoro, V. B., Morra, Sacca', Francesco, V., Scarano, A. P., D'Adamo, S., Banfi, P., Gasparini, F. M., Santorelli, A. E., Lehesjoki, Filla, Alessandro

مصطلحات موضوعية: Adult, Age of Onset, Ataxia, complications/genetics/pathology, DNA Mutational Analysis, DNA, Mitochondrial, genetics, Family Health, Female, Humans, Intellectual Disability, Magnetic Resonance Imaging, methods, Myoclonic Epilepsie, Progressive, Point Mutation

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/15742102; volume:252; firstpage:897; lastpage:900; numberofpages:3; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11588/480236; http://dx.doi.org/10.1007/s00415-005-0766-3

الاتاحة: http://hdl.handle.net/11588/480236
https://doi.org/10.1007/s00415-005-0766-3

المؤلفون: V. Scarano, Giuseppe De Michele, Paolo Gasparini, Lucio Santoro, Giovanni Coppola, Anna Perretti, Filippo M. Santorelli, Alessandro Filla, Sandro Banfi, Adamo Pio d'Adamo, Francesco Saccà, Chiara Criscuolo, Pasquale Striano, Anna E. Lehesjoki, Salvatore Striano, Vincenzo Brescia Morra, Fabrizio Barbieri

المساهمون: G., Coppola, C., Criscuolo, Michele, G. D., Striano, Salvatore, F., Barbieri, P., Striano, A., Perretti, L., Santoro, V. B., Morra, Sacca', Francesco, V., Scarano, A. P., D'Adamo, S., Banfi, P., Gasparini, F. M., Santorelli, A. E., Lehesjoki, Filla, Alessandro, Coppola, G, Criscuolo, C, De Michele, G, Striano, S, Barbieri, F, Striano, P, Perretti, A, Santoro, L, Brescia Morra, V, Sacca, F, Scarano, V, D'Adamo, Ap, Banfi, Sandro, Gasparini, P, Santorelli, Fm, Lehesjoki, Ae, Filla, A., DE MICHELE, Giuseppe, Barbieri, Fabrizio, Perretti, ANNA CARMELA AGNESE, Santoro, Lucio, BRESCIA MORRA, Vincenzo, Banfi, S, DE MICHELE, G, BRESCIA MORRA, V, D'Adamo, ADAMO PIO, Gasparini, Paolo

مصطلحات موضوعية: Pediatrics, Neurology, Ataxia: pathology, DNA Mutational Analysis, Mental Retardation: complications, Neurological disorder, pathology [Ataxia], Progressive: genetics, Epilepsy, Mental Retardation, Ataxia: genetics, genetics, Age of Onset, Mitochondrial: genetics, genetic [Mitochondrial], Progressive: pathology, Adult, Ataxia, Ataxia: complications, DNA, Mitochondrial, Family Health, Female, Humans, Magnetic Resonance Imaging, Magnetic Resonance Imaging: methods, Mental Retardation: genetics, Mental Retardation: pathology, Myoclonic Epilepsies, Progressive, Progressive: complications, Point Mutation, pathology [Progressive], Adult, Age of Onset, Ataxia, complications/genetics/pathology, DNA Mutational Analysis, DNA, genetics, Family Health, Female, Humans, Intellectual Disability, complications/genetics/pathology, Magnetic Resonance Imaging, methods, Myoclonic Epilepsies, complications/genetics/pathology, Point Mutation, medicine.symptom, Human, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, complication [Ataxia], Myoclonic Epilepsie, complication [Progressive], Progressive myoclonus epilepsy, DNA, Mitochondrial, methods, DNA Mutational Analysi, pathology [Mental Retardation], Intellectual Disability, medicine, Psychiatry, complication [Mental Retardation], genetic [Progressive], business.industry, complications/genetics/pathology, genetic [Ataxia], medicine.disease, Myoclonic Epilepsies, Progressive, Developmental disorder, method [Magnetic Resonance Imaging], Neurology (clinical), genetic [Mental Retardation], Age of onset, business, methods, Myoclonic Epilepsie, Myoclonus

وصف الملف: ELETTRONICO; STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3159fccb024d61cf37016b521b9df23
http://hdl.handle.net/11588/480236

المؤلفون: J, Kolehmainen, R, Norio, S, Kivitie-Kallio, E, Tahvanainen, A, de la Chapelle, A E, Lehesjoki

المصدر: European Journal of Human Genetics. 5:206-213

مصطلحات موضوعية: Haplotypes, Face, Intellectual Disability, Genetics, Chromosome Mapping, Humans, Point Mutation, Abnormalities, Multiple, Eye Abnormalities, Syndrome, Linkage Disequilibrium, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e514f0e658b97e7ed98ad4a673977ac0
https://doi.org/10.1159/000484765

المؤلفون: J Tuominen, A E Lehesjoki, Virpi Raivio, Tero Kivelä, M Täll

المصدر: Acta Ophthalmologica. 91

مصطلحات موضوعية: BAP1, medicine.medical_specialty, business.industry, Melanoma, Cousin, General Medicine, medicine.disease, Rare cancer, Dermatology, eye diseases, 3. Good health, Ocular oncology, Surgery, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, 030221 ophthalmology & optometry, medicine, Family history, business, Index case, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::690b6e26bc8ae73871098d9211b7f8c2
https://doi.org/10.1111/j.1755-3768.2013.4444.x

المؤلفون: A E Lehesjoki, Montgomery Slatkin, Nelson B. Freimer, Alan C. Peterson, A. de la Chapelle, A Di Rienzo

المصدر: Human Molecular Genetics. 4:887-894

مصطلحات موضوعية: Genetic Markers, Linkage disequilibrium, Molecular Sequence Data, Population, DNA, Satellite, Biology, Linkage Disequilibrium, 03 medical and health sciences, 0302 clinical medicine, Gene mapping, Genetic linkage, Genetics, Humans, education, Molecular Biology, Alleles, Finland, Genetics (clinical), DNA Primers, 030304 developmental biology, 0303 health sciences, education.field_of_study, Base Sequence, Genome, Human, Haplotype, Chromosome Mapping, General Medicine, Complete linkage, Genetics, Population, Genetic distance, Microsatellite, Chromosomes, Human, Pair 4, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43dfff6b3592315b56f4605b24b3b1ea
https://doi.org/10.1093/hmg/4.5.887

المؤلفون: Outi Mäkitie, Tarja Linnankivi, Anne Polvi, Tero Kivelä, Anna Majander, A E Lehesjoki, Päivi Lindahl

المصدر: Acta Ophthalmologica. 90

مصطلحات موضوعية: medicine.medical_specialty, Retina, Retinal, General Medicine, Exudative retinal detachment, Biology, Surgery, Telomere, Vascular loops, Ophthalmology, chemistry.chemical_compound, medicine.anatomical_structure, chemistry, Genotype, medicine, Brain cysts, Gestation, sense organs

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4a84005fcdc0b1058159ea582e1aa4fd
https://doi.org/10.1111/j.1755-3768.2012.3463.x

المؤلفون: Ville Artto, Auli Siren, Anne Polvi, Maija Wessman, Eric M. Sobel, Mikko Kallela, Aarno Palotie, Heikki Rantala, A E Lehesjoki

المصدر: Neurology. 78(15)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Linkage disequilibrium, Adolescent, Migraine Disorders, Locus (genetics), Linkage Disequilibrium, Young Adult, Epilepsy, Internal medicine, medicine, Polymorphic Microsatellite Marker, Humans, Child, Finland, Familial hemiplegic migraine, Genetics, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 12, business.industry, Articles, Middle Aged, medicine.disease, Comorbidity, Pedigree, Migraine, Genetic Loci, Microsatellite, Female, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ccb095b3e6620db4e56d2cc9ef560a3
https://pubmed.ncbi.nlm.nih.gov/22218271

المؤلفون: E Hovi, U M Ritanen-Mohammed, H Boyd, A. de la Chapelle, H Kääriäinen, J Kaste, A E Lehesjoki

المصدر: Journal of Medical Genetics. 31:201-205

مصطلحات موضوعية: Male, Chromosome Disorders, Biology, 03 medical and health sciences, Inversion (linguistics), Pregnancy, Intellectual Disability, Genetics, Humans, Mild form, Finland, Genetics (clinical), 030304 developmental biology, Chromosomal inversion, Chromosome Aberrations, 0303 health sciences, Chi-Square Distribution, 030305 genetics & heredity, Karyotype, Abortion rate, Chromosome Banding, Pedigree, Abortion, Spontaneous, Chromosome Inversion, Female, Chromosomes, Human, Pair 8, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b605aab6ce2207c613a1e4ce83628b1
https://doi.org/10.1136/jmg.31.3.201