Relevant bibliographies by topics / Syndromic and non-syndromic

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  2. Dissertations / Theses
  3. Books
  4. Book chapters
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Academic literature on the topic 'Syndromic and non-syndromic'

Author: Grafiati
Published: 4 June 2021
Last updated: 1 February 2022

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Journal articles on the topic "Syndromic and non-syndromic"

1

Biesecker, LG, and J. Johnston. "Syndromic and non-syndromic GLI3 phenotypes." Clinical Genetics 68, no. 3 (2005): 284. http://dx.doi.org/10.1111/j.1399-0004.2005.0485a.x.

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CAGLAYAN, AHMET O. "Genetic causes of syndromic and non-syndromic autism." Developmental Medicine & Child Neurology 52, no. 2 (2010): 130–38. http://dx.doi.org/10.1111/j.1469-8749.2009.03523.x.

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Laird, Dale W. "Syndromic and non-syndromic disease-linked Cx43 mutations." FEBS Letters 588, no. 8 (2014): 1339–48. http://dx.doi.org/10.1016/j.febslet.2013.12.022.

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Le Tourneau, Thierry, Jean Mérot, Antoine Rimbert, et al. "Genetics of syndromic and non-syndromic mitral valve prolapse." Heart 104, no. 12 (2018): 978–84. http://dx.doi.org/10.1136/heartjnl-2017-312420.

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Mitral valve prolapse (MVP) is a common condition that affects 2%–3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two different forms of non-syndromic MVP. While FED is still considered a degenerative disease associated with ageing, frequent familial clustering has been demonstrated for myxomatous MVP. Familial and genetic studies led to the recognition of reduced penetrance and large phenotypic variability, and to the
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ȘOMFELEAN, Oana-Maria. "Rhinolalia aperta in a syndromic and non-syndromic context." Revista Română de Terapia Tulburărilor de Limbaj şi Comunicare 3, no. 2 (2017): 53–67. http://dx.doi.org/10.26744/rrttlc.2017.3.2.07.

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Bergqvist, C., P. Ramia, O. Abbas, and M. Kurban. "Genetics of syndromic and non-syndromic hereditary nail disorders." Clinical Genetics 91, no. 6 (2016): 813–23. http://dx.doi.org/10.1111/cge.12852.

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Sasidharan, Manjima, ViashaliKanhoba Keluskar, and AnjanaSatish Bagewadi. "Non syndromic double lip- a rare case report." Annals of Oral Health and Dental Research 2, no. 1 (2018): C3–5. http://dx.doi.org/10.21276/aohdr.1873.

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Basoya, Seema, Sridevi Koduri, Ishita Gupta, and VinodVijay Chandar. "Familial non-syndromic oligodontia." Journal of Indian Academy of Oral Medicine and Radiology 27, no. 3 (2015): 437. http://dx.doi.org/10.4103/0972-1363.170489.

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Verbakel, Sanne K., Ramon A. C. van Huet, Camiel J. F. Boon, et al. "Non-syndromic retinitis pigmentosa." Progress in Retinal and Eye Research 66 (September 2018): 157–86. http://dx.doi.org/10.1016/j.preteyeres.2018.03.005.

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Mohan, R. P. S., S. Verma, A. Singh, and U. Singh. "Non-syndromic double lip." Case Reports 2013, may22 1 (2013): bcr2013008664. http://dx.doi.org/10.1136/bcr-2013-008664.

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Dissertations / Theses on the topic "Syndromic and non-syndromic"

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Pretorius, Pamela Reed. "Elucidating a role for BBS3 in syndromic and non-syndromic retinal disease." Diss., University of Iowa, 2010. https://ir.uiowa.edu/etd/2760.

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Hundreds of individually rare, but collectively common Mendelian disorders result in visual impairment. One of these disorders is a heterogeneous syndromic form of retinal degeneration, Bardet-Biedl Syndrome (BBS). This disease is an autosomal recessive disorder characterized by retinal degeneration, obesity, learning disabilities, congenital anomalies, and an increased incidence of hypertension and diabetes. Typically, individuals with BBS experience vision loss during childhood leading to blindness by the third decade of life. At least fourteen genes (BBS1-BBS14) are reported to individual c
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Shaw, Diana Frances. "Genetic analysis of non-syndromic and syndromic cleft lip with or without cleft palate." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp04/nq24564.pdf.

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Wong, Fung Ki. "Application of genetic analyses in studies of syndromic and non-syndromic cleft lip and palate /." Stockholm, 2000. http://diss.kib.ki.se/2000/91-628-4035-5/.

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Howe, Brian James. "Expanding the dental phenotype of non syndromic orofacial clefting." Thesis, University of Iowa, 2013. https://ir.uiowa.edu/etd/4993.

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Pappas, Nicholas Harry Barr. "Expanding the occlusal phenotype of non-syndromic orofacial clefting." Thesis, University of Iowa, 2018. https://ir.uiowa.edu/etd/6243.

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Introduction: Patients with oral clefts can present with variable occlusal anomalies often thought to be a result of surgical intervention, which makes it difficult to characterize the occlusal phenotypic spectrum of orofacial clefting. Little research has been performed on the prevalence of occlusal anomalies and whether the prevalence of these anomalies is elevated in unaffected relatives of individuals with overt oral clefts. To date, this study is the largest international collection of children with non-syndromic clefts, their relatives and controls that aim to characterize the spectrum o
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Koillinen, Hannele. "Molecular genetics of non-syndromic cleft palate and van der Woude syndrome." Helsinki : University of Helsinki, 2003. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/koillinen/.

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Bosch, Jason. "Significance of connexion genes in non-syndromic deafness in Africans." Master's thesis, University of Cape Town, 2013. http://hdl.handle.net/11427/3088.

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Instrum, Susette M. "Cephalometric comparison of the craniofacial skeletal morphology between Moebius syndrome and non-syndromic controls." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape8/PQDD_0015/MQ46507.pdf.

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Hampshire, Daniel James. "The identification and characterisation of a gene causing non-syndromic mental retardation." Thesis, University of Leeds, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.515533.

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Lo, Giacco Deborah Grazia. "Genetics of male infertility: molecular study of non-syndromic cryptorchidism and spermatogenic impairment." Doctoral thesis, Universitat Autònoma de Barcelona, 2013. http://hdl.handle.net/10803/129093.

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La presente tesis es una aportación al conocimiento de las bases genéticas de la criptorquidia no sindrómica y de las formas idiopáticas de espermatogénesis anómala. RXFP2 y ESR1 son dos genes candidatos en la etiología de la criptorquidia no sindrómica debido al rol del receptor RXFP2 en el control hormonal del descenso testicular y al posible papel del receptor ESR1 como mediador de los efectos de substancias capaces de interferir con el desarrollo del tracto urogenital masculino. La primera parte de la tesis está enfocada en el estudio del papel de dos variantes de estos genes en la et
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Books on the topic "Syndromic and non-syndromic"

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Instrum, Susette M. Cephalometric comparison of the craniofacial skeletal morphology between mobius syndrome and non-syndromic controls. University of Toronto, Faculty of Dentistry], 1999.

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2

Selnes, J. Eric. Cephalometric comparison of craniofacial morphology between velocardiofacial syndrome with confirmed 22q 11.2 microdeletions : isolated cleft palate and non-syndromic children. University of Toronto, Faculty of Dentistry], 1997.

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Naslenas, Skaiste. Pre and post-operative CT based morphometric analysis of patients with non-syndromic unilateral coronal synostosis (UCS). 2005.

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4

Stewart, Alex G., Sam Ghebrehewet, and Peter MacPherson. New and emerging infectious diseases. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198745471.003.0026.

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This chapter describes the increasing global problem of new and emerging infections, many zoonotic, ranging from the recently described Middle East respiratory syndrome (MERS) to bacteria now resistant to all locally available antimicrobial agents. The environmental, human, technological, and microbial factors contributing to disease emergence are assessed. Changes in environment and land use result in the spread of vector-borne diseases into new areas, and global travel and trade may introduce pathogens to non-immune populations. The breakdown of health services following political change or
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Ritchie, James, Darren Green, Constantina Chrysochou, and Philip A. Kalra. Renal artery stenosis. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0213.

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Renovascular disease refers to a narrowing of a main or branch renal artery. Consequences include loss of functional renal tissue and renovascular hypertension, with other manifestations depending on the underlying cause. Worldwide the most common cause is atherosclerotic narrowing, with other causal pathologies including fibromuscular disease (FMD) and inflammatory conditions. FMD occurs much more frequently in women than in men, and is associated with smoking but genetic predisposing factors are also suspected. In South East Asia, Takayasu arteritis is an important cause.Takayasu disease oft
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Kravitz, Amy, ed. Oxford Handbook of Humanitarian Medicine. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199565276.001.0001.

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The Oxford Handbook of Humanitarian Medicine (OHHM) is a practical guide covering all aspects of the provision of care in humanitarian situations and complex emergencies, and includes evidence based clinical guidance, aimed specifically at resource limited situations, as well as essential non-clinically related information relevant for people working in field operations and development. The OHHM provides clear recommendations, from the experts, on the unique challenges faced by health providers in humanitarian settings including clinical presentations for which conventional medical training of
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Syrris, Petros, and Alexandros Protonotarios. Arrhythmogenic right ventricular cardiomyopathy: genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0359.

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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder of the heart muscle which is typically inherited in an autosomal dominant manner. It is believed to be familial in over 50% of cases. A recessive mode of inheritance has also been reported in syndromic cases with cardiocutaneous features. The classic form of the disorder is considered to be ‘a disease of the desmosome’ as pathogenic variants have been identified in five genes encoding key desmosomal proteins: plakoglobin, desmoplakin, plakophilin-2, desmoglein-2, and desmocollin-2. Mutations in these genes account for 30–50%
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Book chapters on the topic "Syndromic and non-syndromic"

1

Tsang, Stephen H., and Tarun Sharma. "Retinitis Pigmentosa (Non-syndromic)." In Advances in Experimental Medicine and Biology. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-95046-4_25.

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Ng, Matthew, and Drew M. Horlbeck. "Non-syndromic Hearing Loss." In Encyclopedia of Otolaryngology, Head and Neck Surgery. Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/978-3-642-23499-6_200023.

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Lynch, E. D., and P. E. Le�n. "Non-Syndromic Dominant DFNA1." In Advances in Oto-Rhino-Laryngology. KARGER, 2000. http://dx.doi.org/10.1159/000059082.

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Kulessa, Moritz, Eneldo Loza Mencía, and Johannes Fürnkranz. "Revisiting Non-specific Syndromic Surveillance." In Advances in Intelligent Data Analysis XIX. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-74251-5_11.

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Stabej, Polona Le Quesne, and Maria Bitner-Glindzicz. "Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss." In Scott-Brown’s Otorhinolaryngology Head and Neck Surgery. CRC Press, 2018. http://dx.doi.org/10.1201/9780203731017-58.

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Tamagawa, Y., K. Kitamura, T. Ishida, et al. "Sensorineural Hearing Impairment, Non-Syndromic, Dominant DFNA11." In Advances in Oto-Rhino-Laryngology. KARGER, 2000. http://dx.doi.org/10.1159/000059092.

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Liu, X. Z., and S. D. M. Brown. "Sensorineural Hearing Impairment: Non-Syndromic, Recessive DFNB2." In Advances in Oto-Rhino-Laryngology. KARGER, 2000. http://dx.doi.org/10.1159/000059093.

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Gui, Dorina, Hanlin L. Wang, and Kristin A. Olson. "Non-syndromic Epithelial Polyps of the Gastrointestinal Tract." In Practical Gastrointestinal Pathology. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-51268-2_14.

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Fukushima, K., Y. Ueki, and R. J. H. Smith. "Sensorineural Hearing Impairment, Non-Syndromic: DFNB5, 6, 7." In Advances in Oto-Rhino-Laryngology. KARGER, 2000. http://dx.doi.org/10.1159/000059103.

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del Castillo, I., M. Rodr�guez, M. C. Tapia, and F. Moreno. "X-Linked Non-Syndromic Sensorineural Deafness: The DFN6 Locus." In Advances in Oto-Rhino-Laryngology. KARGER, 2000. http://dx.doi.org/10.1159/000059100.

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Conference papers on the topic "Syndromic and non-syndromic"

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Agani, Zana, Aida Rexhepi, Vjosa Hamiti Krasniqi, Jehona Ahmedi, and Megime Loxha. "Family Related Non Syndromic Supernumerary Teeth -Case Reports." In University for Business and Technology International Conference. University for Business and Technology, 2017. http://dx.doi.org/10.33107/ubt-ic.2017.302.

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Büsching, Carolyn, Luminita Radulescu, Roland Laszig, and Ralf Birkenhäger. "Rare non-syndromic prelingual hearing disorders in a southeast European patient collective." In Abstract- und Posterband – 91. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Welche Qualität macht den Unterschied. © Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1711195.

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Taylor, Kyle R., Adam P. DeLuca, Corey W. Goodman, et al. "AudioGene: Computer-based prediction of genetic factors involved in non-syndromic hearing impairment." In 2011 9th IEEE/ACS International Conference on Computer Systems and Applications (AICCSA). IEEE, 2011. http://dx.doi.org/10.1109/aiccsa.2011.6126605.

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Bhagat, Shruti, Diego Vozzi, Anna Morgan, et al. "Targeted Next-Generation Sequencing for Molecular Diagnosis of Non-Syndromic Hearing Loss in Qatar." In Qatar Foundation Annual Research Conference Proceedings. Hamad bin Khalifa University Press (HBKU Press), 2016. http://dx.doi.org/10.5339/qfarc.2016.hbpp2915.

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Feng, Yang, and Zhang Lu. "Auditory Processing Impairments Under Background Noise in Children with Non-Syndromic Cleft Lip and/or Palate." In Interspeech 2016. ISCA, 2016. http://dx.doi.org/10.21437/interspeech.2016-38.

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Arturi, V., A. Aschendorff, S. Arndt, R. Birkenhäger, and R. Laszig. "Moleculargenetic Analyse of non-syndromic hearing-impairment in early childhood using the example of the gene MYO15 A." In Abstract- und Posterband – 89. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Forschung heute – Zukunft morgen. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1640715.

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Schade-Mann, T., B. Vona, A. Tropitzsch, et al. "DFNA37 (autosomal dominant non-syndromic hearing loss 37) is caused by COL11A1 variants – confirmatory evidence by a novel splicing variant." In Abstract- und Posterband – 91. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Welche Qualität macht den Unterschied. © Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1711065.

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You might also be interested in the extended bibliographies on the topic 'Syndromic and non-syndromic' for particular source types:
Journal articles Dissertations / Theses
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