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Статті в журналах з теми "Genetic disorders in children"
Ćirić, Sanela. "DIFFERENCES IN PARENTS' ATTITUDES TOWARDS THE CAUSES OF NEURODEVELOPMENTAL DISORDERS." Multidisciplinarni Pristupi u Edukaciji i Rehabilitaciji 6, no. 7 (August 15, 2024): 161–70. http://dx.doi.org/10.59519/mper6115.
Повний текст джерелаFisch, Gene S., Nancy Carpenter, Patricia N. Howard-Peebles, Jeanette J. A. Holden, Jack Tarleton, Richard Simensen, and Agatino Battaglia. "Developmental Trajectories in Syndromes With Intellectual Disability, With a Focus on Wolf-Hirschhorn and Its Cognitive–Behavioral Profile." American Journal on Intellectual and Developmental Disabilities 117, no. 2 (February 1, 2012): 167–79. http://dx.doi.org/10.1352/1944-7558-117.2.167.
Повний текст джерелаLashwood, Alison. "Preimplantation genetic diagnosis to prevent genetic disorders in children." British Journal of Nursing 14, no. 2 (January 2005): 64–70. http://dx.doi.org/10.12968/bjon.2005.14.2.17433.
Повний текст джерелаBarrie, Alpha-Umaru. "Youth perspectives on genetic inheritance, carrier status and disclosure." Journal of Haemophilia Practice 3, no. 2 (July 1, 2016): 21–28. http://dx.doi.org/10.17225/jhp00077.
Повний текст джерелаRudin, I. V. "SPEECH DISORDERS OF GENETIC ORIGIN IN TEACHING PRACTICE." Education & Pedagogy Journal, no. 1(1) (July 6, 2021): 56–63. http://dx.doi.org/10.23951/2782-2575-2021-1-56-63.
Повний текст джерелаMueller, Sven C., Pamela Ng, Ninet Sinaii, Ellen W. Leschek, Liza Green-Golan, Carol VanRyzin, Monique Ernst, and Deborah P. Merke. "Psychiatric characterization of children with genetic causes of hyperandrogenism." European Journal of Endocrinology 163, no. 5 (November 2010): 801–10. http://dx.doi.org/10.1530/eje-10-0693.
Повний текст джерелаZhestkova, M. A., and D. Yu Ovsyannikov. "GENETIC DISORDERS OF SURFACTANT PROTEINS." Pediatria. Journal named after G.N. Speransky 100, no. 5 (October 11, 2021): 82–89. http://dx.doi.org/10.24110/0031-403x-2021-100-5-82-89.
Повний текст джерелаYou, Haizhen, Junyao Shi, Fangfang Huang, Zhiyun Wei, Gary Jones, Wenchong Du, and Jing Hua. "Advances in Genetics and Epigenetics of Developmental Coordination Disorder in Children." Brain Sciences 13, no. 6 (June 11, 2023): 940. http://dx.doi.org/10.3390/brainsci13060940.
Повний текст джерелаPletcher, Beth A., and Nelson L. Turcios. "Pulmonary Manifestations of Genetic Disorders in Children." Pediatric Clinics of North America 68, no. 1 (February 2021): 1–24. http://dx.doi.org/10.1016/j.pcl.2020.09.010.
Повний текст джерелаClauss, Sarah B., and Peter O. Kwiterovich. "Genetic disorders of lipoprotein transport in children." Progress in Pediatric Cardiology 17, no. 2 (September 2003): 123–33. http://dx.doi.org/10.1016/s1058-9813(03)00049-3.
Повний текст джерелаДисертації з теми "Genetic disorders in children"
Robinson, Sally Jane. "Semantic knowledge representation and access in children with genetic disorders." Thesis, University of Essex, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.435580.
Повний текст джерелаBava, Sunita. "Reduced microstructural white matter integrity in a genetic metabolic disorder a diffusion tensor MRI study /." Connect to a 24 p. preview or request complete full text in PDF format. Access restricted to UC campuses, 2007. http://wwwlib.umi.com/cr/ucsd/fullcit?p3274808.
Повний текст джерелаTitle from first page of PDF file (viewed January 8, 2008). Available via ProQuest Digital Dissertations. Vita. Includes bibliographical references (p. 75-84).
Glass, Jennifer Elaine. "CURRENT PRACTICES OF PEDIATRICIANS REGARDING SCREENING FOR METABOLIC DISORDERS AMONG INTERNATIONALLY ADOPTED CHILDREN." Case Western Reserve University School of Graduate Studies / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=case1244084138.
Повний текст джерелаIchikawa, Shoji. "The molecular genetic analysis of three human neurological disorders." free online free to MU campus, others may purchase, 2002. http://wwwlib.umi.com/cr/mo/preview?3074409.
Повний текст джерелаWinslow, Hayley R. "Pre- and Post-Test Parent Perceptions of Genetic Testing for Children with Autism Spectrum Disorder (ASD)." The Ohio State University, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=osu1492505122437373.
Повний текст джерелаKomulainen-Ebrahim, J. (Jonna). "Genetic aetiologies and phenotypic variations of childhood-onset epileptic encephalopathies and movement disorders." Doctoral thesis, Oulun yliopisto, 2019. http://urn.fi/urn:isbn:9789526222356.
Повний текст джерелаTiivistelmä Uusien sekvensointimenetelmien käyttöönotto on mahdollistanut epileptisten enkefalopatioiden ja liikehäiriöiden uusien geneettisten syiden löytymisen. Näissä sairausryhmissä geenien ja ilmiasujen vaihtelevuus on suurta. Tutkimuksen tarkoituksena oli löytää uusia geneettisiä syitä ja ilmiasuja lapsuusiällä alkavissa vaikeahoitoisissa epilepsioissa ja epileptisissä tai kehityksellisissä joko itsenäisesti tai yhdessä liikehäiriön kanssa esiintyvissä enkefalopatioissa sekä perheittäin esiintyvissä liikehäiriöissä. Lisäksi selvitettiin eksomisekvensoinnin käyttökelpoisuutta kliinisessä diagnostiikassa näiden potilasryhmien kohdalla. Tutkimukseen osallistui yhteensä 12 sisäänottokriteerit täyttävää lasta, joiden sairauden syy oli jäänyt tuntemattomaksi. GABRG2-geenin mutaatiot aiheuttivat epileptisiä enkefalopatioita, joiden uutena ilmiasuna oli etenevä taudinkuva, johon liittyivät aivojen rappeutuminen, migroiva imeväisiän paikallisalkuinen epilepsia sekä autismikirjon häiriö. Tutkimuksessa löydettiin uusia GABRG2-mutaatioita: p.P282T ja p.S306F. NACC1-geenin mutaatio aiheutti epilepsian, kehitysvammaisuuden, molemminpuolisen kaihin ja autonomisen hermoston toiminnan häiriön. Hyperkineettinen liikehäiriö oli uusi NACC1 p.R298W -mutaatioon liittyvä ilmiasu. SAMD9L-geenin mutaatio aiheutti perheessä esiintyvän liikehäiriön. Neurologinen ja hematologinen ilmiasu olivat hyvin vaihtelevia. Aivojen kuvantamislöydöksiin sisältyi pikkuaivojen rappeutumista ja valkoisen aivoaineen muutoksia aivokammioiden ympärillä. Näiden tutkimustulosten julkaisemisen jälkeen SAMD9L-geenin mutaatioiden on todettu olevan yksi yleisimmistä perinnöllisistä luuytimen vajaatoiminnan ja myelodysplasian syistä. Homotsygoottinen MTR-geenin mutaatio aiheutti varhain alkaneen epileptisen enkefalopatian, liikehäiriön ja hematologisen häiriön. Kofaktori- ja vitamiini hoidot vähensivät epileptisiä kohtauksia, joihin tavanomainen lääkitys ei tehonnut. Geneettiset syyt ja ilmiasut ovat epileptisissä enkefalopatioissa ja liikehäiriöissä hyvin vaihtelevia, ja osaan on olemassa spesifi hoito. Eksomisekvensointi on käyttökelpoinen diagnostiikan ja uusien geneettisten syiden etsimisen apuna. Tässä tutkimuksessa eksomisekvensoinnin avulla kymmenestä potilaasta kahdelle (20%) saatiin varmistettua geneettinen diagnoosi
Gaonkar, Shraddha. "Challenges in counseling for rare chromosome conditions genetic counselors' perspective /." Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23239.
Повний текст джерелаCarlisle, Kathleen Walker. "School Factors Related to the Social and Behavioral Success of Children and Adolescents with Tuberous Sclerosis: Special Education Placement, Services, and Parental Involvement." [Tampa, Fla.] : University of South Florida, 2003. http://purl.fcla.edu/fcla/etd/SFE0000154.
Повний текст джерелаKovac, Ilija. "Genetic epidemiology and phenotypic resolution of complex traits : studies in specific language impairment and alcoholism." Thesis, McGill University, 2000. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=36974.
Повний текст джерелаHolt, Erika Tyne. "Perceptions of Severity of Children's Bleeding Disorders: Impact on Parental Quality of Life and Reproductive Decisions." Case Western Reserve University School of Graduate Studies / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=case1383060340.
Повний текст джерелаКниги з теми "Genetic disorders in children"
Manes, Singer Sandra, and Pauls David L, eds. The heredity of behavior disorders in adults and children. New York: Plenum Medical Book Co., 1986.
Знайти повний текст джерелаBaker-Gomez, Sherry. Missing genetic pieces: Strategies for living with VCFS, the chromosome 22q11 deletion. Phoenix, Ariz: Desert Pearl Pub., 2004.
Знайти повний текст джерелаJ, Epstein Charles, Erickson Robert P. 1939-, and Wynshaw-Boris Anthony Joseph, eds. Inborn errors of development: The molecular basis of clinical disorders of morphogenesis. Oxford: Oxford University Press, 2004.
Знайти повний текст джерелаLipsanen-Nyman, Marita. Mulibrey-nanismi. Helsinki: Helsingin yliopistollisen keskussairaalan ja Helsingin yliopiston I lastentautien klinikka, 1986.
Знайти повний текст джерелаJ, Epstein Charles, Erickson Robert P. 1939-, and Wynshaw-Boris Anthony Joseph, eds. Inborn errors of development: The molecular basis of clinical disorders of morphogenesis. 2nd ed. Oxford: Oxford University Press, 2008.
Знайти повний текст джерелаGilbert, Patricia. The A-Z reference book of syndromes and inherited disorders. 2nd ed. San Disgo, Calif: Singular Pub. Group, 1996.
Знайти повний текст джерелаBlum, Laurie. Laurie Blum's Free money for childhood behavioral and genetic disorders. New York: Simon & Schuster, 1992.
Знайти повний текст джерелаK, Lloyd June, and Scriver Charles R, eds. Genetic and metabolic disease in pediatrics. London: Butterworths, 1985.
Знайти повний текст джерелаC, McCabe Paul, Shaw Steven R, and National Association of School Psychologists., eds. Genetic and acquired disorders: Current topics and interventions for educators. Thousand Oaks, Calif: Corwin Press, 2010.
Знайти повний текст джерелаOliver, Quarrell, ed. Juvenile Huntington's disease: (and other trinucleotide repeat disorders). Oxford: Oxford University Press, 2009.
Знайти повний текст джерелаЧастини книг з теми "Genetic disorders in children"
Nicoll, Neil. "Genetic and chromosomal disorders." In Assessment and Diagnosis of Neurodevelopmental Disorders in Young Children, 32–39. London: Routledge, 2021. http://dx.doi.org/10.4324/9781003169925-3.
Повний текст джерелаMitchell, Jonathan A., and Christopher M. Cielo. "Genetic Studies of Sleep in Children." In Genetics of Sleep and Sleep Disorders, 437–57. Cham: Springer International Publishing, 2024. http://dx.doi.org/10.1007/978-3-031-62723-1_17.
Повний текст джерелаNicoll, Neil. "Selected genetic and chromosomal disorders." In Assessment and Diagnosis of Neurodevelopmental Disorders in Young Children, 40–55. London: Routledge, 2021. http://dx.doi.org/10.4324/9781003169925-4.
Повний текст джерелаWitt, H. "Gene Mutations in Children with Chronic Pancreatitis." In Genetic Disorders of the Exocrine Pancreas, 23–29. Basel: KARGER, 2002. http://dx.doi.org/10.1159/000070339.
Повний текст джерелаLai-Cheong, Joey E., and Amy S. Paller. "Current and Novel Approaches for Genetic Skin Disorders." In Severe Skin Diseases in Children, 189–202. Berlin, Heidelberg: Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/978-3-642-39532-1_11.
Повний текст джерелаDepositario-Cabacar, Dewi Frances T., William McClintock, and Tom Reehal. "Common Genetic and Neurocutaneous Disorders in Childhood Epilepsy." In Epilepsy in Children and Adolescents, 59–72. Chichester, UK: John Wiley & Sons, Ltd, 2012. http://dx.doi.org/10.1002/9781119998600.ch4.
Повний текст джерелаBonduelle, Maryse, Ayse Aytoz, Ann Wilikens, Andrea Buysse, Elvire Van Assche, Paul Devroey, Andre Van Steirteghem, and Inge Liebaers. "Genetic Problems and Congenital Malformations in 1987 ICSI Children." In Male Sterility and Motility Disorders, 282–97. New York, NY: Springer New York, 1999. http://dx.doi.org/10.1007/978-1-4612-1522-6_26.
Повний текст джерелаPf�ffle, R. "Diagnosis of Endocrine Disorders with Molecular Genetic Methods." In Diagnostics of Endocrine Function in Children and Adolescents, 30–50. Basel: KARGER, 2003. http://dx.doi.org/10.1159/000073543.
Повний текст джерелаMcDuffie, Andrea, Angela John Thurman, Marie Moore Channell, and Leonard Abbeduto. "Language Disorders in Children with Intellectual Disability of Genetic Origin." In Handbook of Child Language Disorders, 52–81. New York, NY : Routledge, 2017.: Psychology Press, 2017. http://dx.doi.org/10.4324/9781315283531-2.
Повний текст джерелаRussell, Jo. "Genesis of a dissociative child." In Treating Children with Dissociative Disorders, 139–54. London: Routledge, 2021. http://dx.doi.org/10.4324/9781003246541-10.
Повний текст джерелаТези доповідей конференцій з теми "Genetic disorders in children"
Nayır Büyükşahin, H., N. Emiralioglu, P. O. Simsek Kiper, B. Sunman, I. Güzelkaş, D. Alboğa, M. Akgül Erdal, et al. "Evaluation of polysomnography findings in children with genetic skeletal disorders." In ERS International Congress 2022 abstracts. European Respiratory Society, 2022. http://dx.doi.org/10.1183/13993003.congress-2022.526.
Повний текст джерелаPONOMARI, Dorina. "Speech therapy assistance in the context of genetic disorders." In Ştiință și educație: noi abordări și perspective. "Ion Creanga" State Pedagogical University, 2023. http://dx.doi.org/10.46727/c.v1.24-25-03-2023.p179-184.
Повний текст джерелаVoinova, V. Y., M. A. M.A., O. S. Grosnova, and S. V. Bochenkov. "Syndromic Forms of Children’s Mental Development Disorders." In Proceedings of III Research-to-Practice Conference with International Participation “The Value of Everyone. The Life of a Person with Mental Disorder: Support, Life Arrangements, Social Integration”. Terevinf, 2023. http://dx.doi.org/10.61157/978-5-4212-0676-7-2023-68-72.
Повний текст джерелаBrew, Bronwyn, Tong Gong, Cecilia Lundholm, Henrik Larsson, and Catarina Almqvist. "Is there a genetic association between atopic disease and internalizing disorders in children?" In ERS International Congress 2017 abstracts. European Respiratory Society, 2017. http://dx.doi.org/10.1183/1393003.congress-2017.oa503.
Повний текст джерелаGarcía-Vélez, Roberto, Luis Serpa-Andrade, and Graciela Serpa-Andrade. "Information and Communication Technologies Learning Methodologies for Children with ADHD." In 13th International Conference on Applied Human Factors and Ergonomics (AHFE 2022). AHFE International, 2022. http://dx.doi.org/10.54941/ahfe1001889.
Повний текст джерелаGuerrero Granda, Steven, Luis Serpa-Andrade, and Luis Guerrero. "Playful strategies to enhance teaching-learning and the inclusion of children with Down syndrome." In 8th International Conference on Human Interaction and Emerging Technologies. AHFE International, 2022. http://dx.doi.org/10.54941/ahfe1002804.
Повний текст джерелаNakano, Bruno Eiji, Gabriel Flamarin Cavasana, Paula Carolina Grande Nakazato, Alana Strucker Barbosa, Isabela Badan Fernandes, Eduardo Silveira Marques Branco, Sarah de Souza Chinelato, et al. "Huntington Disease-Like 2: a case report." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.494.
Повний текст джерелаConstantin, Iuliana Luminița, and Marin Chirazi. "Manifestări comportamentale deviante ale elevilor din ciclul primar – în special ale celor cu tulburări din spectrul autist." In Congresul Ştiinţific Internaţional "Sport. Olimpism. Sănătate". State University of Physical Education and Sport, Republic of Moldova, 2022. http://dx.doi.org/10.52449/soh22.11.
Повний текст джерелаBhaskaran, Smitha, and Pramod Nair. "430 X-linked ichthyosis, an under diagnosed genetic skin disorder in children-case report." In RCPCH Conference Singapore. BMJ Publishing Group Ltd, 2021. http://dx.doi.org/10.1136/bmjpo-2021-rcpch.241.
Повний текст джерелаReis, Drielly Tífany Ferreira, Rafaela Rodrigues Pereira, and Rogerio Alves da Silva. "Influence of physiotherapy in the treatment of children with autism spectrum disorder." In II INTERNATIONAL SEVEN MULTIDISCIPLINARY CONGRESS. Seven Congress, 2023. http://dx.doi.org/10.56238/homeinternationalanais-034.
Повний текст джерелаЗвіти організацій з теми "Genetic disorders in children"
Riley, Catherine, and Kate Wilson. Anaesthesia for Children with Skin Disorders. World Federation of Societies of Anaesthesiologists, August 2024. http://dx.doi.org/10.28923/atotw.530.
Повний текст джерелаAndrews, Lori, B. Complex Genetic Disorders and Intellectual Property Rights Final Report. Office of Scientific and Technical Information (OSTI), November 2006. http://dx.doi.org/10.2172/895052.
Повний текст джерелаJacobsen, George. Group experience with parents of preschool children with seizure disorders. Portland State University Library, January 2000. http://dx.doi.org/10.15760/etd.2892.
Повний текст джерелаPELIKHOVA, ANNA. Methodology of health-improving work with preschool children with speech disorders. Science and Innovation Center Publishing House, December 2020. http://dx.doi.org/10.12731/metodika-ozdorovitelnoy-raboty.
Повний текст джерелаWallace, Ina F. Universal Screening of Young Children for Developmental Disorders: Unpacking the Controversies. RTI Press, February 2018. http://dx.doi.org/10.3768/rtipress.2018.op.0048.1802.
Повний текст джерелаShin, Su-Jeong Hwang, Brianna Smith, and Kristi Gaines. Investigation of Therapy Clothing Products for Children with Autism Spectrum Disorders. Ames: Iowa State University, Digital Repository, November 2015. http://dx.doi.org/10.31274/itaa_proceedings-180814-1151.
Повний текст джерелаMitcham, Sara. Location of Dyspraxic Characteristics in Children with Severe "Functional" Articulation Disorders. Portland State University Library, January 2000. http://dx.doi.org/10.15760/etd.2277.
Повний текст джерелаAndrews, Lori. Ethical and legal issues arising from complex genetic disorders. DOE final report. Office of Scientific and Technical Information (OSTI), October 2002. http://dx.doi.org/10.2172/805433.
Повний текст джерелаSaini, Ravinder, Syed Altafuddin, Sunil Vaddamanu, Vishwanath Gurumurthy, and Masroor Kanji. The Association Between Genetic Factors and Temporomandibular Disorders: A Systematic Literature Review. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, April 2024. http://dx.doi.org/10.37766/inplasy2024.4.0063.
Повний текст джерелаYlvisaker, Mark. Rehabilitation of Children and Adults With Cognitive-Communication Disorders After Brain Injury. Rockville, MD: American Speech-Language-Hearing Association, 2003. http://dx.doi.org/10.1044/policy.tr2003-00146.
Повний текст джерела