Imagen de Portada

Next-generation whole-exome sequencing contribution to identification of rare autosomal recessive diseases

Fuente: Redalyc

Guardado en:

Detalles Bibliográficos
Autor principal:	Tautvydas Rančelis
Formato:	Artículo científico
Lenguaje:	en
Publicado:	Vilniaus Universitetas 2013
Materias:	Medicina syndromes whole exome sequencing Rare autosomal recessive diseases
Acceso en línea:	Acceder al recurso
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares

Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies
por: Eglė Preikšaitienė
Publicado: (2016)

Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report
por: Diana Ramirez-Montaño
Publicado: (2019)

Imerslund-Gräsbeck Syndrome: Clinical Case
por: Ledmar Jovanny Vargas-Rodríguez
Publicado: (2023)

Laterally positioned flap associated with subepithelial connective tissue graft for coverage of isolated gingival recession
por: Thiago Marchi Martins
Publicado: (2011)

Root coverage of adjacent gingival recessions with a combination of two surgical techniques
por: Thiago Marchi Martins
Publicado: (2015)

Supplemental material to publication "First whole-genome sequence of Mycobacterium avium subsp. silvaticum isolated from a diseased Egyptian goose (Alopochen aegyptiaca)"
por: Barth, Stefanie, et al.
Publicado: (2025)

Therapy of gingival recessions using laterally positioned flap plus connective tissue graft: Case reports
por: Isabela Fernandes-Benedito
Publicado: (2021)

Guía clínica: consenso para Chile en enfermedad de Fabry
por: Carmen Varas M.
Publicado: (2012)

Coronally advanced flap with connective tissue graft for the treatment of multiple recession defects: Case Report
por: Tabatha Padilla-Coronado
Publicado: (2024)

The influence of primary occlusal trauma on the development of gingival recession
por: Mirella Lindoso Gomes Campos
Publicado: (2016)

Figure 1 from: Esselens L, Addison P, Bakengesa J, Bota L, Canhanga L, Cugala D, Daniel B, De Meyer M, Delatte H, Herpers J-M, Jordaens K, Kabota S, Kudra A, Majubwa R, Manrakhan A, Mussumbe M, Mwatawala M, Theeten F, Van den Spiegel D, Vanbergen S, Vangestel C, Virgilio M (2025) Navigating uncertainty in museum workflows: genomic data mining and curation of the Diptera collections hosted at RMCA. Biodiversity Data Journal 13: e157274. https://doi.org/10.3897/BDJ.13.e157274
por: Esselens, Lore, et al.
Publicado: (2025)

Statistical analysis of the prevalence, severity and some possible etiologic factors of gingival recessions among the adult population of Thamar city, Yemen
por: Mansour Ali S. Ataa
Publicado: (2011)

Adrenal venous sampling in a patient with adrenal Cushing syndrome
por: Carlos Esteban Builes-Montaño
Publicado: (2015)

Use of cyanoacrylate for the stabilization of tissues in root coverage procedures: A case series report with 5 years follow up.
por: Javier Patricio Rojas-Cortez
Publicado: (2021)

Takotsubo syndrome and impending thyroid storm: A case report and brief review of the literature
por: Yilmar Alexander Meza-González
Publicado: (2022)

Burnout syndrome: evaluation in dentists in the city of Fortaleza, Brazil
por: Sandro Dias Rocha Mendes Carneiro
Publicado: (2013)

CLOVES Syndrome in an Indian Infant: A Comprehensive Case Report with Radiological Correlation and Review of the PIK3CA-Related Overgrowth Spectrum
por: Joshi, Umesh
Publicado: (2026)

Supplementary material 6 from: Le H, Tran TT, Nguyen S, La D, Vu N, Le MH, Nguyen H (2025) Genomic insights into salt-tolerant, exopolysaccharide-producing Bacillus velezensis DTA1 isolated from coral island soil in Vietnam: Implications for soil remediation. One Ecosystem 10: e158806. https://doi.org/10.3897/oneeco.10.e158806
por: Le, Hue, et al.
Publicado: (2025)

What is the risk of cardiovascular disease in polycystic ovarian syndrome?
por: Tripdatabase
Publicado: (2025)

Impact of the cash position on the performance of Brazilian companies during periods of economic recession
por: Adriana Bortoluzzo
Publicado: (2023)

Idiopathic pleuroparenchymal fibroelastosis (PPFE) - A case study of a rare entity
por: E.B. Boerner
Publicado: (2017)

Mapping recession risk for cultural heritage stone in Mexico City due to dry and wet deposition of urban air pollutants
por: Javier Omar Castillo-Miranda
Publicado: (2017)

Chapter The Zebrafish Kupffer’s Vesicle: A Special Organ in a Model Organism to Study Human Diseases
por: Roxo-Rosa, Mónica, et al.
Publicado: (2021)

Gerstmann’s syndrome and unilateral optic ataxia in the emergency department
por: Breno José Alencar Pires Barbosa
Publicado: (2017)

Free gingival graft to increase gingival dimensions in Down syndrome patients: clinical case report
por: Carla Hariene Montanha
Publicado: (2015)

Renoprotective effects of 3 HMG reductase blockers in elderly patients with acute coronary syndrome undergoing revascularization through percutaneous coronary intervention
por: Olga A. Osipova
Publicado: (2019)

Antenatal Cytogenetic Testing in Havana, Cuba
por: Luis A. Méndez-Rosado
Publicado: (2014)

Cognitive impairment in clinically isolated syndrome. A systematic review
por: Carolina Fiorin Anhoque
Publicado: (2010)

Diabetology & Metabolic Syndrome
Publicado: (2010)

Oral Health Status After Orthodontic Treatment: a Retrospective Study
por: Gul Yildiz Telatar
Publicado: (2021)

Subepithelial connective tissue graft: a case report
por: Juliana Alcarás Saraiva
Publicado: (2011)

Chronic gemcitabine-induced thrombotic microangiopathy in the kidneys
por: ANA MARÍA ARANGO-RIVAS
Publicado: (2022)

Dry eye in critically ill patients: integrative review
por: Diego Dias de Araújo
Publicado: (2017)

Sampling of the petrosal sinuses. Indications, results and usefulness
por: Fernando José Meléndez-Negrette
Publicado: (2020)

Nephrotic syndrome with a nephritic component associated with toxoplasmosis in an immunocompetent young man.
por: Julio E. Barrios
Publicado: (2012)

Rare diseases: diagnostic and therapeutic journey of the families of affected people
por: Geisa dos Santos Luz
Publicado: (2015)

Transferencia del conocimiento para la prevención de ITS/VIH/SIDA en adolescentes
por: María Antonieta Olvera-Blanco
Publicado: (2015)

Resilient performance faced with a period of economic crisis: Integrated model of conceptions and research strategy
por: Leandro K. Rosa
Publicado: (2023)

The Evolution of Demarketing Literature
por: Víctor Quiñones Cintrón
Publicado: (2017)

Evaluating the Recession’s Impact on State School Finance Systems
por: Bruce D. Baker
Publicado: (2014)