Artículos de revistas sobre el tema "Speech Phenotype"
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Carrigg, Bronwyn, Louise Parry, Elise Baker, Lawrence D. Shriberg y Kirrie J. Ballard. "Cognitive, Linguistic, and Motor Abilities in a Multigenerational Family with Childhood Apraxia of Speech". Archives of Clinical Neuropsychology 31, n.º 8 (24 de noviembre de 2016): 1006–25. http://dx.doi.org/10.1093/arclin/acw077.
Texto completoZanaboni, Martina Paola, Ludovica Pasca, Barbara Valeria Villa, Antonella Faggio, Serena Grumi, Livio Provenzi, Costanza Varesio y Valentina De Giorgis. "Characterization of Speech and Language Phenotype in GLUT1DS". Children 8, n.º 5 (27 de abril de 2021): 344. http://dx.doi.org/10.3390/children8050344.
Texto completoTodorović, Jelena, Dragan Pavlović, Mirna Zelić y Lana Jerkić. "Cognitive phenotype in neurofibromatosis type 1". Engrami 42, n.º 2 (2020): 69–79. http://dx.doi.org/10.5937/engrami41-28271.
Texto completoKirk, Beth, Mira Kharbanda, Mark S. Bateman, David Hunt, Emma-Jane Taylor, Amanda L. Collins, David J. Bunyan et al. "Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region". Cytogenetic and Genome Research 160, n.º 4 (2020): 185–92. http://dx.doi.org/10.1159/000507409.
Texto completoBoyce, Jessica O., Supriya Raj, Katherine Sanchez, Mary L. Marazita, Angela T. Morgan y Nicky Kilpatrick. "Speech Phenotyping in Unaffected Family Members of Individuals With Nonsyndromic Cleft Lip With or Without Palate". Cleft Palate-Craniofacial Journal 56, n.º 7 (29 de enero de 2019): 867–76. http://dx.doi.org/10.1177/1055665618823936.
Texto completoBurd, Larry. "Language and Speech in Tourette Syndrome: Phenotype and Phenomenology". Current Developmental Disorders Reports 1, n.º 4 (27 de agosto de 2014): 229–35. http://dx.doi.org/10.1007/s40474-014-0027-1.
Texto completoHaapanen, Marjut, Kasper Katisko, Tuomo Hänninen, Johanna Krüger, Päivi Hartikainen, Annakaisa Haapasalo, Anne M. Remes y Eino Solje. "C9orf72 Repeat Expansion Does Not Affect the Phenotype in Primary Progressive Aphasia". Journal of Alzheimer's Disease 78, n.º 3 (24 de noviembre de 2020): 919–25. http://dx.doi.org/10.3233/jad-200795.
Texto completoTurner, Samantha J., Amy Brown, Marta Arpone, Vicki Anderson, Angela T. Morgan y Ingrid E. Scheffer. "Dysarthria and broader motor speech deficits in Dravet syndrome". Neurology 88, n.º 8 (1 de febrero de 2017): 743–49. http://dx.doi.org/10.1212/wnl.0000000000003635.
Texto completoYang, Lili, Xiaoli Shu, Shujiong Mao, Yi Wang, Xiaonan Du y Chaochun Zou. "Genotype–Phenotype Correlations in Angelman Syndrome". Genes 12, n.º 7 (28 de junio de 2021): 987. http://dx.doi.org/10.3390/genes12070987.
Texto completoEfthymiou, Stephanie, Vincenzo Salpietro, Conceicao Bettencourt y Henry Houlden. "Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A". Journal of Pediatric Genetics 07, n.º 03 (14 de junio de 2018): 114–16. http://dx.doi.org/10.1055/s-0038-1651526.
Texto completoBrignell, Amanda, Conway Gu, Alison Holm, Bronwyn Carrigg, Daisy A. Sheppard, David J. Amor y Angela T. Morgan. "Correction: Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome". European Journal of Human Genetics 29, n.º 4 (15 de marzo de 2021): 719. http://dx.doi.org/10.1038/s41431-021-00855-4.
Texto completoShriberg, Lawrence D., Barbara A. Lewis, J. Bruce Tomblin, Jane L. McSweeny, Heather B. Karlsson y Alison R. Scheer. "Toward Diagnostic and Phenotype Markers for Genetically Transmitted Speech Delay". Journal of Speech, Language, and Hearing Research 48, n.º 4 (agosto de 2005): 834–52. http://dx.doi.org/10.1044/1092-4388(2005/058).
Texto completoKinter, Sara, Katelyn Kotlarek, Anna Meehan y Carrie Heike. "Characterising the speech phenotype in individuals with craniofacial microsomia: a scoping review protocol". BMJ Open 13, n.º 2 (febrero de 2023): e069233. http://dx.doi.org/10.1136/bmjopen-2022-069233.
Texto completoVan Zuijlen, Diederick A., Patrick L. M. Huygen, Els M. R. De Leenheer, Lut Van Laer, Egbert H. Huizing, Guy Van Camp y W. R. J. Cremers. "Further Delineation of the DFNA5 Phenotype: Results of Speech Recognition Tests". Annals of Otology, Rhinology & Laryngology 111, n.º 7 (julio de 2002): 639–41. http://dx.doi.org/10.1177/000348940211100712.
Texto completoStager, Sheila V., Frances J. Freeman y Allen Braun. "Characteristics of Fluency and Speech in Two Families With High Incidences of Stuttering". Journal of Speech, Language, and Hearing Research 58, n.º 5 (octubre de 2015): 1440–51. http://dx.doi.org/10.1044/2015_jslhr-s-14-0080.
Texto completoIrwin, Julia, Trey Avery, Jacqueline Turcios, Lawrence Brancazio, Barbara Cook y Nicole Landi. "Electrophysiological Indices of Audiovisual Speech Perception in the Broader Autism Phenotype". Brain Sciences 7, n.º 12 (2 de junio de 2017): 60. http://dx.doi.org/10.3390/brainsci7060060.
Texto completoSchmidt, Karen L., Katherine Neiswanger, Ellen Cohn, Rebecca Desensi, Carla Brandon, Kathleen Bardi y Mary L. Marazita. "Nasolabial Fold Discontinuity during Speech as a Possible Extended Cleft Phenotype". Cleft Palate-Craniofacial Journal 50, n.º 2 (marzo de 2013): 201–6. http://dx.doi.org/10.1597/11-103.
Texto completoThomas, R. H., S. K. Chung, S. E. Wood, T. D. Cushion, C. J. G. Drew, C. L. Hammond, J. F. Vanbellinghen, J. G. L. Mullins y M. I. Rees. "Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay". Brain 136, n.º 10 (11 de septiembre de 2013): 3085–95. http://dx.doi.org/10.1093/brain/awt207.
Texto completoBrignell, Amanda, Miya St John, Amber Boys, Amanda Bruce, Carla Dinale, Lauren Pigdon, Michael S. Hildebrand, David J. Amor y Angela T. Morgan. "Characterization of speech and language phenotype in children with NRXN1 deletions". American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177, n.º 8 (25 de octubre de 2018): 700–708. http://dx.doi.org/10.1002/ajmg.b.32664.
Texto completoMazzoli, Manuela y Agnete Parving. "Phenotype-genotype correlations - can we expect to find them?" Audiological Medicine 2, n.º 4 (enero de 2004): 255–58. http://dx.doi.org/10.1080/16513860410005352.
Texto completoRusz, Jan, Tereza Tykalova, Michal Novotny, David Zogala, Karel Sonka, Evzen Ruzicka y Petr Dusek. "Defining Speech Subtypes in De Novo Parkinson Disease". Neurology 97, n.º 21 (4 de octubre de 2021): e2124-e2135. http://dx.doi.org/10.1212/wnl.0000000000012878.
Texto completoWatts, Christopher R. y Yan Zhang. "Progression of Self-Perceived Speech and Swallowing Impairment in Early Stage Parkinson's Disease: Longitudinal Analysis of the Unified Parkinson's Disease Rating Scale". Journal of Speech, Language, and Hearing Research 65, n.º 1 (12 de enero de 2022): 146–58. http://dx.doi.org/10.1044/2021_jslhr-21-00216.
Texto completoRehman, Adil U., Malaika Hamid, Sher Alam Khan, Muhammad Eisa, Wasim Ullah, Zia Ur Rehman, Muzammil Ahmad Khan et al. "The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3)". Genes 13, n.º 12 (6 de diciembre de 2022): 2299. http://dx.doi.org/10.3390/genes13122299.
Texto completoKing, Kelly A., Sandra Gordon-Salant, Nicole Yanjanin, Christopher Zalewski, Ari Houser, Forbes D. Porter y Carmen C. Brewer. "Auditory Phenotype of Niemann-Pick Disease, Type C1". Ear and Hearing 35, n.º 1 (2014): 110–17. http://dx.doi.org/10.1097/aud.0b013e3182a362b8.
Texto completoCarneol, Susan Oliff, Susan M. Marks y LuAnn Weik. "The Speech-Language Pathologist". American Journal of Speech-Language Pathology 8, n.º 1 (febrero de 1999): 23–32. http://dx.doi.org/10.1044/1058-0360.0801.23.
Texto completoDa Silva, Jorge Diogo, Diana Gonzaga, Ana Barreta, Hildeberto Correia, Ana Maria Fortuna, Ana Rita Soares y Nataliya Tkachenko. "Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication". Biomedicines 10, n.º 12 (30 de noviembre de 2022): 3078. http://dx.doi.org/10.3390/biomedicines10123078.
Texto completoÇebi, Alper Han y Şule Altıner. "Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions". Molecular Syndromology 11, n.º 4 (2020): 197–206. http://dx.doi.org/10.1159/000509645.
Texto completoShriberg, Lawrence D., Thomas F. Campbell, Heather L. Mabie y Jenny H. McGlothlin. "Initial studies of the phenotype and persistence of speech motor delay (SMD)". Clinical Linguistics & Phonetics 33, n.º 8 (20 de junio de 2019): 737–56. http://dx.doi.org/10.1080/02699206.2019.1595733.
Texto completoShriberg, Lawrence D., Nancy L. Potter y Edythe A. Strand. "Prevalence and Phenotype of Childhood Apraxia of Speech in Youth With Galactosemia". Journal of Speech, Language, and Hearing Research 54, n.º 2 (abril de 2011): 487–519. http://dx.doi.org/10.1044/1092-4388(2010/10-0068).
Texto completoAl-Murrani, Amel, Fern Ashton, Salim Aftimos, Alice M. George y Donald R. Love. "Amino-Terminal Microdeletion within theCNTNAP2Gene Associated with Variable Expressivity of Speech Delay". Case Reports in Genetics 2012 (2012): 1–4. http://dx.doi.org/10.1155/2012/172408.
Texto completoRice, Mabel L., Stephen R. Zubrick, Catherine L. Taylor, Lesa Hoffman y Javier Gayán. "Longitudinal Study of Language and Speech of Twins at 4 and 6 Years: Twinning Effects Decrease, Zygosity Effects Disappear, and Heritability Increases". Journal of Speech, Language, and Hearing Research 61, n.º 1 (22 de enero de 2018): 79–93. http://dx.doi.org/10.1044/2017_jslhr-l-16-0366.
Texto completoRead, Andrew. "Commentary on the question of genotype-phenotype correlations in genetic hearing impairment". Audiological Medicine 2, n.º 4 (enero de 2004): 259–61. http://dx.doi.org/10.1080/16513860410005361.
Texto completoPadovani, Alessandro, Maura Cosseddu, Enrico Premi, Silvana Archetti, Alice Papetti, Chiara Agosti, Barbara Bigni et al. "The Speech and Language FOXP2 Gene Modulates the Phenotype of Frontotemporal Lobar Degeneration". Journal of Alzheimer's Disease 22, n.º 3 (25 de noviembre de 2010): 923–31. http://dx.doi.org/10.3233/jad-2010-101206.
Texto completoBoutoleau-Bretonnière, Claire, Agnès Camuzat, Isabelle Le Ber, Kawtar Bouya-Ahmed, Rita Guerreiro, Anne-Laure Deruet, Christelle Evrard et al. "A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation". Journal of Alzheimer's Disease 43, n.º 2 (21 de noviembre de 2014): 625–30. http://dx.doi.org/10.3233/jad-141512.
Texto completoCatusi, Ilaria, Maria Garzo, Anna Paola Capra, Silvana Briuglia, Chiara Baldo, Maria Paola Canevini, Rachele Cantone et al. "8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature". Genes 12, n.º 5 (27 de abril de 2021): 652. http://dx.doi.org/10.3390/genes12050652.
Texto completoCanu, Elisa, Federica Agosta, Giovanni Battistella, Edoardo G. Spinelli, Jessica DeLeon, Ariane E. Welch, Maria Luisa Mandelli et al. "Speech production differences in English and Italian speakers with nonfluent variant PPA". Neurology 94, n.º 10 (10 de enero de 2020): e1062-e1072. http://dx.doi.org/10.1212/wnl.0000000000008879.
Texto completoBROSSEAU-LAPRÉ, FRANÇOISE y SUSAN RVACHEW. "Underlying manifestations of developmental phonological disorders in French-speaking pre-schoolers". Journal of Child Language 44, n.º 6 (17 de noviembre de 2016): 1337–61. http://dx.doi.org/10.1017/s0305000916000556.
Texto completoBrendal, Megan A., Kelly A. King, Christopher K. Zalewski, Brenda M. Finucane, Wendy Introne, Carmen C. Brewer y Ann C. M. Smith. "Auditory Phenotype of Smith–Magenis Syndrome". Journal of Speech, Language, and Hearing Research 60, n.º 4 (14 de abril de 2017): 1076–87. http://dx.doi.org/10.1044/2016_jslhr-h-16-0024.
Texto completoAnger, Gregory J., Susan Crocker, Kyle McKenzie, Kerry K. Brown, Cynthia C. Morton, Karen Harrison y Jennifer J. MacKenzie. "X-Linked Deafness-2 (DFNX2) Phenotype Associated With a Paracentric Inversion Upstream of POU3F4". American Journal of Audiology 23, n.º 1 (marzo de 2014): 1–6. http://dx.doi.org/10.1044/1059-0889(2013/13-0018).
Texto completoKing, Kelly A., Tomoko Makishima, Christopher K. Zalewski, Vladimir K. Bakalov, Andrew J. Griffith, Carolyn A. Bondy y Carmen C. Brewer. "Analysis of Auditory Phenotype and Karyotype in 200 Females with Turner Syndrome". Ear and Hearing 28, n.º 6 (diciembre de 2007): 831–41. http://dx.doi.org/10.1097/aud.0b013e318157677f.
Texto completoBessett, Ryan M., Joseph V. Casillas y Marta Ramírez Martínez. "Language choice and accommodation". Spanish in Context 14, n.º 1 (10 de abril de 2017): 78–98. http://dx.doi.org/10.1075/sic.14.1.04bes.
Texto completoLenz, Danielle R., Amiel A. Dror, Guy Wekselman, Helmut Fuchs, Martin Hrabé de Angelis y Karen B. Avraham. "The inner ear phenotype of Volchok (Vlk): An ENU-induced mouse model for CHARGE syndrome". Audiological Medicine 8, n.º 3 (junio de 2010): 110–19. http://dx.doi.org/10.3109/1651386x.2010.490039.
Texto completoRincon, Alejandra, Paola Paez-Rojas y Fernando Suárez-Obando. "8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy". Case Reports in Genetics 2019 (10 de enero de 2019): 1–6. http://dx.doi.org/10.1155/2019/7608348.
Texto completoBudisteanu, M., S. Papuc, A. Erbescu, E. Andrei, I. Streata, M. Cucu, C. Iliescu et al. "The psychiatric phenotype of 15q11.2-q13.3 duplications". European Psychiatry 64, S1 (abril de 2021): S720. http://dx.doi.org/10.1192/j.eurpsy.2021.1908.
Texto completoLamônica, Dionísia Aparecida Cusin, Camila da Costa Ribeiro, Mayara dos Santos Baldin y Maria de Lourdes Merighi Tabaquim. "Klinefelter syndrome: a speech-language and neuropsychological assessment". Revista CEFAC 20, n.º 5 (octubre de 2018): 665–71. http://dx.doi.org/10.1590/1982-021620182056818.
Texto completoShevela, E. Ya, V. G. Degtyareva, A. V. Sosnovskaya, E. V. Voronova, M. Yu Kafanova, I. M. Rashchupkin, A. A. Ostanin y E. R. Chernykh. "Therapeutic effect of soluble factors of M2 phenotype macrophages in children with language impairments". Medical Immunology (Russia) 23, n.º 5 (17 de noviembre de 2021): 1137–50. http://dx.doi.org/10.15789/1563-0625-teo-2224.
Texto completoLogan, Ashley M., Alexandria E. Gawlik, James K. Aden, Natalie C. Jarvis y Gregory R. Dion. "Pharyngoesophageal Segment Distention Across Volumes and Pathology". Journal of Speech, Language, and Hearing Research 63, n.º 11 (13 de noviembre de 2020): 3594–99. http://dx.doi.org/10.1044/2020_jslhr-19-00401.
Texto completoHalpin, Chris, Grace Owen, Gustavo A. Gutiérrez-Espeleta, Katherine Sims y Heidi L. Rehm. "Audiologic Features of Norrie Disease". Annals of Otology, Rhinology & Laryngology 114, n.º 7 (julio de 2005): 533–38. http://dx.doi.org/10.1177/000348940511400707.
Texto completoManuela, Priolo, Radio Francesca Clementina, Pizzi Simone, Pintomalli Letizia, Pantaleoni Francesca, Mancini Cecilia, Cordeddu Viviana et al. "Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype". Genes 12, n.º 7 (30 de junio de 2021): 1009. http://dx.doi.org/10.3390/genes12071009.
Texto completode Heer, Anne-Martine R., Patrick L. M. Huygen, Rob W. J. Collin, Jaap Oostrik, Hannie Kremer y W. R. J. Cremers. "Audiometric and Vestibular Features in a Second Dutch DFNA20/26 Family with a Novel Mutation in ACTG1". Annals of Otology, Rhinology & Laryngology 118, n.º 5 (mayo de 2009): 382–90. http://dx.doi.org/10.1177/000348940911800511.
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