المؤلفون: Samuel F. Berkovic, Nigel C K Tan, J.C. Mulley, James T. Pelekanos, Sarah E. Heron, Danya F. Vears, Jacinta M McMahon, Ingrid E. Scheffer

المصدر: Neurology. 63:1090-1092

مصطلحات موضوعية: Genetics, biology, Haplotype, Drug resistance, Disease, medicine.disease, Bioinformatics, Epilepsy, Genotype, biology.protein, medicine, Neurology (clinical), Allele frequency, P-glycoprotein, Genetic association

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a3c82147fda6340728922dbd1e1affadTest
https://doi.org/10.1212/01.wnl.0000137051.33486.c7Test

المؤلفون: D.W. Cooper, Robin J. Leach, P. Popescu, M.R. Harrison, T. Kranert, H.A. Phillips, C. Collet, J. Xu, M. Yerle, T. Tamura, I. Mísek, N.A. Jenkins, T. Muramatsu, B.O. Bengtsson, E. Capanna, M. Letarte, M. Djabali, R.B. Gaynor, J.R. Testa, J. Zima, R. Wassmuth, T. Bellón, M. Macholán, M. Kawalika, L. Selleri, D.J. Gilbert, T. Ohta, J.C. Mulley, M.J. Reitsma, A. Geurts van Kessel, D. Muhleman, F.J. Otto, E.A. Fon, T. Taguchi, A.D. Thompson, D. Olde Weghuis, V. Najfeld, T. Miyauchi, S. Demczuk, P.N. Tsichlis, D.E. Iles, R.F. Suijkerbuijk, B.-H. Shieh, F.S. Collins, T.W. Glover, G. Levan, H. Lewalski, David Schlessinger, G.A. Evans, M.I. Pigozzi, N.G. Copeland, P. Doi, C.H.M. Mellink, R.S. Sparkes, S. Garagna, G. Thomas, Y. Jinno, B.L. Weber, A. Swaroop, Wl. Flejter, C.A. Redi, K. Klinga Levan, F.M. Kiely, M. Watkins, T. Kajii, N. Andayani, R. Suikerbuijk, A.J. Lusis, E. Fernández-Ruiz, H. Jaafar, G.R. Sutherland, S.L. Gupta, E. Petit, A. Bellacosa, P.A. Lazo, O. Gabriel-Robez, H.M. Kozman, Dennis Drayna, T. Kishino, K. Yoshiura, I. Klisak, T.A. Jones, B.L. De Stavola, Jean-Louis Mandel, L.M. McKenzie, K. Patel, A.L. Hawkins, A.J. Solari, D. Sheer, H. Soejima, J.-Y. Zhou, O. Delattre, R.M. Alfano, H. Hayes, C. Bouniol, G. Viale, Stephen Wood, T. Kaname, A. Kuwano, N. Niikawa, G.P. Chrousos, S. St-Jacques, Y. Matsuda, D. McElligott, C. Lee, N.C. Vamvakopoulos, E. Wang Jabs, K.J. Abel, M.G. Pallavicini, W.H. Moolenaar, G.A. Rouleau, B. Wieringa, J.M. Shipley, Y. Lahbib-Mansais, D.E. Comings, B. Segers, J. Menninger, C.A. Griffin, S.C. Chandrasekharappa, H.-S. Hong, M. Giovannini, Y. Rumpler, H. Burda, Huntington F. Willard, J. Gellin, C. Bernabéu, M.F.G.B. Gebbink

المصدر: Cytogenetic and Genome Research. 64:I-IV

مصطلحات موضوعية: Botany, Genetics, Zoology, Biology, Molecular Biology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8194bd9a5cc2be8ae9de8dd9eb729471Test
https://doi.org/10.1159/000133569Test

المؤلفون: G.R. Sutherland, H.A. Phillips, J.C. Mulley, David F. Callen, H. Kozman

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Genetic Markers, Male, Linkage (software), Genetics, Sex Characteristics, Polymorphism, Genetic, Genetic Linkage, Chromosome Mapping, Genetic linkage map, Biology, Complete linkage, Chromosome 16, Gene mapping, Genetic linkage, Evolutionary biology, Genetic marker, Humans, Female, Polymorphic locus, Molecular Biology, Chromosomes, Human, Pair 16, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::869364349445608cd41b8f192aad1240Test
https://doi.org/10.1159/000133474Test

المؤلفون: S. Ohta, D. Simon, J.H. Kurth, C.N. Hahn, B.K. May, M.C. Kurth, I. Rodriguez de Ledesma, Y.D. Patel, C. Steinlein, B.D. Harris, J.P. Banga, S. Mazan, B. Weiffenbach, D.S. Gallagher, O.M. Garson, J.E. Womack, Z. Tümer, H. Nishi, H.M. Kozman, E.J.M. Schuurman, T. Sasazuki, N. Aoki, A. Pellicer, H.A. Phillips, A.A.B. Bergen, G.J.B. van Ommen, J.C. Mulley, J.A. Padilla, A. Kato, C. Jeanpierre, N. Roeckel, A.P. Monaco, C. Rudduck, D. Sheer, T.A. Jones, E. Austruy, C. Junien, R. Espinosa, A.M. Ryan, G.R. Sutherland, J.-P. Bachellerie, Ca. Westbrook, M. Schmid, H. Lerach, E. Dietzsch, A. Rabasco, D.F. Callen, L. Sottrup-Jensen, M. Cohen-Salmon, T. Kristensen, M M Le Beau, S. Hirosawa, A.M. McGregor, J.J. Pérez-Regadera, E. Bakker, P. Laslo, J.L. Fernández-García, L.-H. Qu, M.C. Wapenaar, M. Dixon, L.M. Duncan, R.H. Martin, R.I. Barnes, A. Kimura, E.M. Bleeker-Wagemakers, A.M. Bowcock, S.A. Whitmore, N. Tommerup, B.B. Knowles, J. Santos, J.L. Omdahl, W.L. Neuman, M. Guttenbach, A.N. Silahtaroglu, P.S. Barnett, M.-G. Mattéi, L. Iannuzzi, Y. Nakamura, E. Baker, P.J. Diergaarde, G.P. Di Meo, M. Martínez-Trancón, S. Toyota

المصدر: Cytogenetic and Genome Research. 62:I-IV

مصطلحات موضوعية: Botany, Genetics, Zoology, Biology, Molecular Biology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9ae4abe1cf905a35dcd56eba4e3fd294Test
https://doi.org/10.1159/000133469Test

المؤلفون: Samuel F. Berkovic, Sarah E. Heron, Michaella C. Richards, Bronwyn E. Grinton, A Davy, Ingrid E. Scheffer, H E Spendlove, J.C. Mulley

المصدر: Journal of medical genetics. 41(3)

مصطلحات موضوعية: Male, Potassium Channels, Positional cloning, DNA Mutational Analysis, Biology, Infant, Newborn, Diseases, Structure-Activity Relationship, Calmodulin, Seizures, KCNQ2 Potassium Channel, Two-Hybrid System Techniques, Genetics, medicine, Humans, Benign familial neonatal seizures, Genetic Testing, Genetics (clinical), Ion channel, Action potential initiation, Epilepsy, Infant, Newborn, Voltage-gated potassium channel, medicine.disease, Potassium channel, Cell biology, Pedigree, Transmembrane domain, Potassium Channels, Voltage-Gated, Mutation, Female, Online Mutation Report, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::835e76ebf94b886677046491e4991ff7Test
https://pubmed.ncbi.nlm.nih.gov/14985406Test

المؤلفون: J Weissenbach, J.C. Mulley, Helen Donis-Keller, Nicola J. Royle, G.R. Sutherland, Michael Dean, J. Gusella, TP Keith, HM Kozman, Ray White, Gilles Vergnaud, Kenneth K. Kidd

المساهمون: Genoscope - Centre national de séquençage [Evry] (GENOSCOPE), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut de génétique et microbiologie [Orsay] (IGM), Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), École Nationale Supérieure de Techniques Avancées (ENSTA Paris), Yale School of Medicine [New Haven, Connecticut] (YSM), Center for Human Genetic Research, Massachusetts General Hospital [Boston], Yale University School of Medicine, Vergnaud, Gilles

المصدر: Genomics
Genomics, 1995, 25 (1), pp.44-58
Genomics, Elsevier, 1995, 25 (1), pp.44-58

مصطلحات موضوعية: Genetic Markers, Male, Databases, Factual, Genotype, Genetic Linkage, [SDV]Life Sciences [q-bio], Molecular Sequence Data, [SDV.GEN] Life Sciences [q-bio]/Genetics, Biology, Polymerase Chain Reaction, Chromosome 16, Genetic linkage, Genetics, Animals, Humans, DNA Primers, Recombination, Genetic, Sex Characteristics, [SDV.GEN]Life Sciences [q-bio]/Genetics, Base Sequence, Genetic Diseases, Inborn, Chromosome Mapping, Hominidae, DNA, [SDV] Life Sciences [q-bio], Female, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9edfb073d1d3ca683351f64c1d827c2Test
https://ensta-paris.hal.science/hal-01160658Test

المؤلفون: H. Kozman, G.R. Sutherland, J.C. Mulley, H.A. Phillips, Analisa D. Thompson

المصدر: Cytogenetics and cell genetics. 64(2)

مصطلحات موضوعية: Genetics, Genetic Markers, Base Sequence, Genetic Linkage, Molecular Sequence Data, Chromosome Mapping, Locus (genetics), Biology, Null allele, Gene mapping, Genetic marker, Genetic linkage, Microsatellite, Humans, Restriction fragment length polymorphism, Allele, Molecular Biology, Genetics (clinical), Alleles, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a8e4e00a4992ab665585c8c3db2b290Test
https://pubmed.ncbi.nlm.nih.gov/8334897Test

المؤلفون: A.K. Gedeon, E. Baker, H. Robinson, M.W. Partington, B. Gross, A. Manca, B. Korn, A. Poustka, S. Yu, G.R. Sutherland, J.C. Mulley

المصدر: Nature genetics. 1(5)

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Fragile x, X Chromosome, Nerve Tissue Proteins, Biology, Fragile X Mental Retardation Protein, Genetics, medicine, Humans, Lymphocytes, Cells, Cultured, Repetitive Sequences, Nucleic Acid, Base Sequence, Chromosome Mapping, RNA-Binding Proteins, medicine.disease, FMR1, Phenotype, Chromosome Banding, Pedigree, Fmr1 gene, Fragile X syndrome, Homogeneous, Fragile X Syndrome, Karyotyping, Female, Trinucleotide repeat expansion, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2f8d6e1f79e6d8f2589585753f3c45cTest
https://pubmed.ncbi.nlm.nih.gov/1302032Test

المؤلفون: Bronwyn E. Grinton, Ingrid E. Scheffer, J.C. Mulley, R.F. Lunan, Sameer M. Zuberi, S.E. Heron, Samuel F. Berkovic, K. Cox

المصدر: European Journal of Paediatric Neurology. 11:33

مصطلحات موضوعية: Genetics, Exon, Pediatrics, Perinatology and Child Health, Gene duplication, medicine, Benign familial neonatal seizures, Neurology (clinical), General Medicine, Biology, medicine.disease, Gene, Phenotype

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::26ba4e08552cc8b6d48a4bb459798a66Test
https://doi.org/10.1016/s1090-3798Test(08)70364-7

المؤلفون: N. Aoki, H.A. Phillips, S. Ohta, H.M. Kozman, D. Simon, G.R. Sutherland, E.M. Bleeker-Wagemakers, D.S. Gallagher, Z. Tümer, M.C. Kurth, G.J.B. van Ommen, M.C. Wapenaar, M. Schmid, E. Bakker, R.H. Martin, C. Jeanpierre, Y. Nakamura, M M Le Beau, E. Baker, W.L. Neuman, P.J. Diergaarde, B.B. Knowles, T.A. Jones, C. Junien, S. Mazan, Y.D. Patel, B.D. Harris, A.M. Bowcock, P. Laslo, E. Dietzsch, D.F. Callen, J.L. Fernández-García, T. Kristensen, J.P. Banga, B.K. May, M. Dixon, J.J. Pérez-Regadera, H. Lerach, N. Tommerup, A. Kimura, M. Guttenbach, L.M. Duncan, O.M. Garson, R.I. Barnes, E. Austruy, Ca. Westbrook, J. Santos, A. Kato, M. Martínez-Trancón, A.M. McGregor, G.P. Di Meo, M.-G. Mattéi, A. Rabasco, S. Toyota, L. Iannuzzi, A. Pellicer, D. Sheer, J.H. Kurth, L.-H. Qu, C. Rudduck, C. Steinlein, A.N. Silahtaroglu, P.S. Barnett, M. Cohen-Salmon, J.L. Omdahl, C.N. Hahn, I. Rodriguez de Ledesma, N. Roeckel, L. Sottrup-Jensen, E.J.M. Schuurman, J.A. Padilla, A.M. Ryan, B. Weiffenbach, A.A.B. Bergen, J.E. Womack, R. Espinosa, T. Sasazuki, J.-P. Bachellerie, A.P. Monaco, H. Nishi, J.C. Mulley, S. Hirosawa, S.A. Whitmore

المصدر: Cytogenetic and Genome Research. 62:248-248

مصطلحات موضوعية: Index (economics), Statistics, Genetics, Subject (documents), Biology, Molecular Biology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cfb57233690d8a62c97f6a1ecf635a4fTest
https://doi.org/10.1159/000133488Test