string(239) "select * FROM articoli_opac WHERE fonte <> 'ISI' AND fonte='ACNP' AND fasc_anno_pubbl='2005' AND fasc_issn='00029297' order by level desc, fasc_key desc, NULLIF(regexp_replace(pagina_ini, E'\\D', '', 'g'), '')::int asc offset 100 limit 25" ACNP - Italian Periodicals Catalogue
Results: << | 101-119    

Articles table of contents

Results : 101-119/119
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
Authors: Snoeckx, Rikkert L. Hugen, Patrick L.M. Feldmann, Delphine Marlin, Sandrine Denoyelle, Françoise Waligora, Jaroslaw Mueller-Malesinska, Malgorzata Pollak, Agneszka Ploski, Rafal Murgia, Alessandra Orzan, Eva Castorina, Pierangela Ambrosetti, Umberto Nowakowska-Szyrwinska, Ewa Bal, Jerzy Wiszniewski, Wojiciech Janecke, Andreas R. Nekahm-Heis, Doris Seeman, Pavel Bendova, Olga Kenna, Margaret A. Frangulov, Anna Rehm, Heidi L. Tekin, Mustafa Incesulu, Armagan Dahl, Hans-Henrik M. du Sart, Desirèe Jenksins, Lucy Lucas, Deirdre Bitner-Glindzicz, Maria Avraham, Karen B. Brownstein, Zippora del Castillo, Ignacio Moreno, Felipe Blin, Nikolaus Pfister, Markus Sziklai, Istvan Toth, Timea Kelley, Philip M. Cohn, Edward S. Van Maldergem, Lionel Hilbert, Pascale Roux, Anne-Françoise Mondain, Michel Hoefsloot, Lies H. Cremers, Cor W.R.J. Löppönen, Tuija Löppönen, Heikki Parving, Agnete Gronskov, Karen Schrijver, Iris Roberson, Joseph Gualandi, Francesca Martini, Alessandro Lina-Granade, Geneviève Pallares-Ruiz, Nathalie Correia, Céu Fialho, Graça Cryns, Kim Hilgert, Nele Van de Heyning, Paul Nishimura, Carla J. Smith, Richard J.H. Van Camp, Guy
Journal: American journal of human genetics
Citation: L. Snoeckx, Rikkert et al., GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study, American journal of human genetics , 77(6), 2005, pp. 945-957
A Mutation of .-Actin That Alters Depolymerization Dynamics Is Associated with Autosomal Dominant Developmental Malformations, Deafness, and Dystonia
Authors: Procaccio, Vincent Salazar, Gloria Ono, Shoichiro Styers, Melanie L. Gearing, Marla Davila, Antonio Jimenez, Richard Juncos, Jorge Gutekunst, Claire-Anne Meroni, Germana Fontanella, Bianca Sontag, Estelle Sontag, Jean Marie Faundez, Victor Wainer, Bruce H.
Journal: American journal of human genetics
Citation: Procaccio, Vincent et al., A Mutation of .-Actin That Alters Depolymerization Dynamics Is Associated with Autosomal Dominant Developmental Malformations, Deafness, and Dystonia, American journal of human genetics , 78(6), 2005, pp. 947-960
Candidate-Gene Screening and Association Analysis at the Autism-Susceptibility Locus on Chromosome 16p: Evidence of Association at GRIN2A and ABAT
Authors: Barnby, Gabrielle Abbott, Aaron Sykes, Nuala Morris, Andrew Weeks, Daniel E. Mott, Richard Lamb, Janine Bailey, Anthony J. Monaco, Anthony P. International Molecular Genetic Study of Autism Consortium (IMGSAC)
Journal: American journal of human genetics
Citation: Barnby, Gabrielle et al., Candidate-Gene Screening and Association Analysis at the Autism-Susceptibility Locus on Chromosome 16p: Evidence of Association at GRIN2A and ABAT, American journal of human genetics , 76(6), 2005, pp. 950-966
Preferential Transmission of Paternal Alleles at Risk Genes in Attention-Deficit/Hyperactivity Disorder
Authors: Hawi, Ziarih Segurado, Ricardo Conroy, Judith Sheehan, Karen Lowe, Naomi Kirley, Aiveen Shields, Denis Fitzgerald, Michael Gallagher, Louise Gill, Michael
Journal: American journal of human genetics
Citation: Hawi, Ziarih et al., Preferential Transmission of Paternal Alleles at Risk Genes in Attention-Deficit/Hyperactivity Disorder, American journal of human genetics , 77(6), 2005, pp. 958-965
Total-Genome Analysis of BRCA1/2-Related Invasive Carcinomas of the Breast Identifies Tumor Stroma as Potential Landscaper for Neoplastic Initiation
Authors: Weber, Frank Shen, Lei Fukino, Koichi Patocs, Attila Mutter, George L. Caldes, Trinidad Eng, Charis
Journal: American journal of human genetics
Citation: Weber, Frank et al., Total-Genome Analysis of BRCA1/2-Related Invasive Carcinomas of the Breast Identifies Tumor Stroma as Potential Landscaper for Neoplastic Initiation, American journal of human genetics , 78(6), 2005, pp. 961-972
Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination
Authors: Woodward, Karen J. Cundall, Maria Sperle, Karen Sistermans, Erik A. Ross, Mark Howell, Gareth Gribble, Susan M. Burford, Deborah C. Carter, Nigel P. Hobson, Donald L. Garbern, James Y. Kamholz, John Heng, Henry Hodes, M.E. Malcolm, Sue Hobson, Grace M.
Journal: American journal of human genetics
Citation: J. Woodward, Karen et al., Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination, American journal of human genetics , 77(6), 2005, pp. 966-987
Rational Inferences about Departures from Hardy-Weinberg Equilibrium
Authors: Wittke-Thompson, Jacqueline K. Pluzhnikov, Anna Cox, Nancy J.
Journal: American journal of human genetics
Citation: K. Wittke-thompson, Jacqueline et al., Rational Inferences about Departures from Hardy-Weinberg Equilibrium, American journal of human genetics , 76(6), 2005, pp. 967-986
Diplotype Trend Regression Analysis of the ADH Gene Cluster and the ALDH2 Gene: Multiple Significant Associations with Alcohol Dependence
Authors: Luo, Xingguang Kranzler, Henry R. Zuo, Lingjun Wang, Shuang Schork, Nicholas J. Gelernter, Joel
Journal: American journal of human genetics
Citation: Luo, Xingguang et al., Diplotype Trend Regression Analysis of the ADH Gene Cluster and the ALDH2 Gene: Multiple Significant Associations with Alcohol Dependence, American journal of human genetics , 78(6), 2005, pp. 973-987
Alternative Splicing Suggests Extended Function of PEX26 in Peroxisome Biogenesis
Authors: Weller, Sabine Cajigas, Ivelisse Morrell, James Obie, Cassandra Steel, Gary Gould, Stephen J. Valle, David
Journal: American journal of human genetics
Citation: Weller, Sabine et al., Alternative Splicing Suggests Extended Function of PEX26 in Peroxisome Biogenesis, American journal of human genetics , 76(6), 2005, pp. 987-1007
The Effect of Single-Nucleotide Polymorphism Marker Selection on Patterns of Haplotype Blocks and Haplotype Frequency Estimates
Authors: Nothnagel, Michael Rohde,Klaus
Journal: American journal of human genetics
Citation: Nothnagel, Michael et Rohde,klaus, The Effect of Single-Nucleotide Polymorphism Marker Selection on Patterns of Haplotype Blocks and Haplotype Frequency Estimates, American journal of human genetics , 77(6), 2005, pp. 988-998
Cathepsin D Deficiency Is Associated with a Human Neurodegenerative Disorder
Authors: Steinfeld, Robert Reinhardt, Konstanze Schreiber, Kathrin Hillebrand, Merle Kraetzner, Ralph Brück, Wolfgang Saftig, Paul Gärtner, Jutta
Journal: American journal of human genetics
Citation: Steinfeld, Robert et al., Cathepsin D Deficiency Is Associated with a Human Neurodegenerative Disorder, American journal of human genetics , 78(6), 2005, pp. 988-998
The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males
Authors: Twigg, Stephen R.F. Matsumoto, Kazuya Kidd, Alexa M.J. Goriely, Anne Taylor, Indira B. Fisher, Richard B. Hoogeboom, A. Jeanette M. Mathijssen, Irene M.J. Lourenço, M. Teresa Morton, Jenny E.V. Sweeney, Elizabeth WIlson, Louise C. Brunner, Han G. Mulliken, John B. Wall, Steven A. Wilkie, Andrew O.M.
Journal: American journal of human genetics
Citation: Twigg, Stephen R.f et al., The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males, American journal of human genetics , 78(6), 2005, pp. 999-1010
Discriminating Power of Localized Three-Dimensional Facial Morphology
Authors: Hammond, Peter Hutton, Tim J. Allanson, Judith E. Buxton, Bernard Campbell, Linda E. Clayton-Smith, Jill Donnai, Dian Karmiloff-Smith, Annette Metcalfe, Kay Murphy, Kieran C. Patton, Michal Pober, Barbara Prescott, Katrina Scambler, Pete Shaw, Adam Smith, Ann C.M. Stevens, Angela F. Temple, Karen I. Hennekam, Raoul Tassabehji, May
Journal: American journal of human genetics
Citation: Hammond, Peter et al., Discriminating Power of Localized Three-Dimensional Facial Morphology, American journal of human genetics , 77(6), 2005, pp. 999-1010
Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations
Authors: Ragge, Nicola K. Brown, Alison G. Poloschek, Charlotte M. Lorenz, Birgit Henderson, Alex R. Clarke, Michael P. Russell-Eggitt, Isabelle Fielder, Alistair Gerrelli, Dianne Martinez-Barbera, Juan Pedro Ruddle, Piers Hurst, Jane Collin, J. Richard O. Salt, Alison Cooper, Simon T. Thompson, Pamela J. Sisodiya, Sanjay M. Williamson, Kathleen A. FitzPatrick, David R. van Heyningen, Veronica Hanson, Isabel M.
Journal: American journal of human genetics
Citation: K. Ragge, Nicola et al., Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations, American journal of human genetics , 76(6), 2005, pp. 1008-1022
Reconstruction of a Functional Human Gene Network, with an Application for Prioritizing Positional Candidate Genes
Authors: Franke, Lude van Bakel, Harm Fokkens, Like de Jong, Edwin D. Egmont-Petersen, Michael Wijmenga, Cisca
Journal: American journal of human genetics
Citation: Franke, Lude et al., Reconstruction of a Functional Human Gene Network, with an Application for Prioritizing Positional Candidate Genes, American journal of human genetics , 78(6), 2005, pp. 1011-1025
A Genomewide Linkage Study of 1,933 Families Affected by Premature Coronary Artery Disease: The British Heart Foundation (BHF) Family Heart Study
Authors: The BHF Family Heart Stud Research Group
Journal: American journal of human genetics
Citation: The Bhf Family Heart Stud Research Group, A Genomewide Linkage Study of 1,933 Families Affected by Premature Coronary Artery Disease: The British Heart Foundation (BHF) Family Heart Study, American journal of human genetics , 77(6), 2005, pp. 1011-1020
Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene
Authors: Nishimura, Darryl Y. Swiderski, Ruth E. Searby, Charles C. Berg, Erik M. Ferguson, Amanda L. Hennekam, Raoul Merin, Saul Weleber, Richard G. Biesecker, Leslie G. Stone, Edwin M. Sheffield, Val C.
Journal: American journal of human genetics
Citation: Y. Nishimura, Darryl et al., Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene, American journal of human genetics , 77(6), 2005, pp. 1021-1033
Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome
Authors: Schmidt, Laura S. Nickerson, Michael L. Warren, Michelle B Glenn, Gladys M. Toro, Jorge R. Merino, Maria J. Turner, Maria L. Choyke, Peter L. Sharma, Nirmala Peterson, James Morrison, Patrick Maher, Eamonn R. Walther, McClellan M. Zbar, Berton Linehan, Marston W.
Journal: American journal of human genetics
Citation: S. Schmidt, Laura et al., Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome, American journal of human genetics , 76(6), 2005, pp. 1023-1033
Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the .2-Subunit of AMP-Activated Protein Kinase (PRKAG2), Not by Phosphorylase Kinase Deficiency
Authors: Burwinkel, Barbara Scott, John W. Bührer, Christoph van Landeghem, Frank K.H. Cox, Gerald F. Wilson, Callum J. Hardie, Grahame D. Kilimann, Manfred W.
Journal: American journal of human genetics
Citation: Burwinkel, Barbara et al., Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the .2-Subunit of AMP-Activated Protein Kinase (PRKAG2), Not by Phosphorylase Kinase Deficiency, American journal of human genetics , 76(6), 2005, pp. 1034-1049
Results: << | 101-119