Loại tài liệu:    Chỉ tìm trong: 
11-20 trong số 23 kết quả
Genetic map of Wilson disease in Spain - A great tool to improve diagnosis and screening
Tác giả: Pablo Alonso-Castellano, Zoe Mariño, María Luisa González-Diéguez, José María Pinazo-Bandera, Esther Molina-Pérez, Manuel Hernández-Guerra, Marta Romero-Gutiérrez, Paula Fernández-Álvarez, Carolina Muñoz, Sara Lorente, Alba Cachero, Manuel Delgado-Blanco, Antonio Tugores, Víctor Vargas, Judith Gómez-Camarero, Francisca Cuenca, Luis Ibáñez-Samaniego, Miguel Fernández-Bermejo, Beatriz Álvarez-Suárez, Paula Iruzubieta, Ana Arencibia-Almeida, Luis García-Villarreal, Antonio Olveira, Javier Ampuero, Marina Berenguer, José Ramón Fernández-Ramos, Jose María Moreno-Planas, María Lázaro-Ríos, Helena Masnou
Xuất bản: Spain: Revista espanola de enfermedades digestivas , 2025
Bộ sưu tập: NCBI
ddc:  797.123
 
Fine-Tuning a Genetic Algorithm for CAMD: A Screening-Guided Warm Start
Tác giả: Yifan Wang, Lorenz Fleitmann, Lukas Raßpe-Lange, Niklas von der Assen, André Bardow, Kai Leonhard
Xuất bản: United States: Journal of chemical information and modeling , 2025
Bộ sưu tập: NCBI
ddc:  004.563
 
Pre-symptomatic scintigraphic and genetic cascade screening in cardiac transthyretin amyloidosis
Tác giả: Katarzyna Holcman, Paweł Rubiś, Mateusz Kęska, Piotr Podolec, Magdalena Kostkiewicz, Bogdan Ćmiel, Agnieszka Stępień, Katarzyna Graczyk, Krystian Mróz, Wojciech Szot, Ewa Dziewięcka, Mateusz Winiarczyk, Maria Kurek
Xuất bản: Germany: European journal of nuclear medicine and molecular imaging , 2025
Bộ sưu tập: NCBI
ddc:  001.4
 
Data-driven consideration of genetic disorders for global genomic newborn screening programs
Tác giả: Thomas Minten, Sophia Adelson, Laura M Amendola, David Bick, Sarah Bick, François Boemer, Alison J Coffey, Nicolas Encina, Alessandra Ferlini, Nils Gehlenborg, Nina B Gold, Robert C Green, Janbernd Kirschner, Bianca E Russell, Laurent Servais, Kristen L Sund, Ryan J Taft, Petros Tsipouras, Hana Zouk
Xuất bản: United States: medRxiv : the preprint server for health sciences , 2025
Bộ sưu tập: NCBI
ddc:  001.4226
 
Management of Prenatal Expanded Genetic Carrier Screening Results for Autosomal Recessive Sensorineural Hearing Loss
Tác giả: Tarika Srinivasan, Shelby Redfield, Tabitha Poorvu, Margaret A Kenna
Xuất bản: England: Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery , 2025
Bộ sưu tập: NCBI
ddc:  658.155
 
Reply to comments on: "International Anal Neoplasia Society's consensus guidelines for anal cancer screening"
Tác giả: Elizabeth A Stier, Megan A Clarke, Stephen E Goldstone, Richard J Hillman, Isabela Rosa-Cunha, Luciana L A Rosa, Joel M Palefsky, Rosalyn Plotzker, Jennifer M Roberts, Naomi Jay, Ashish A Deshmukh, Nicolas Wentzensen, Yuxin Liu, I Mary Poynten, Eugenio Nelson Cavallari, Valeria Fink, Luis F Barroso, Tamzin Cuming
Xuất bản: United States: International journal of cancer , 2025
Bộ sưu tập: NCBI
ddc:  299.689
 
Genetics and primary care : an introductory guide
Tác giả: Imran Rafi, John Spicer
Xuất bản: Oxford ; New York: Radcliffe Pub , 2007
Bộ sưu tập: Tôn giáo
eBook (pdf)
ddc:  2007 H-847
 
Genetics and primary care : an introductory guide
Tác giả: Imran Rafi, John Spicer
Xuất bản: Oxford ; New York: Radcliffe Pub , c2007.
Bộ sưu tập: Khoa học ứng dụng
eBook (pdf)
ddc:  616.042
 
KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening
Tác giả: Lucas Bouys, Patricia Vaduva, Magalie Haissaguerre, Gérald Raverot, Matthias Kroiss, Annabel Berthon, Karine Perlemoine, Igor Tauveron, Laurence Guignat, Rossella Libé, Lionel Groussin, Guillaume Assié, Anne Jouinot, Eric Pasmant, Martin Reincke, Françoise Borson-Chazot, Amandine Ferrière, Marie-Christine Vantyghem, Constantine A Stratakis, Peter Kamenický, Maria Candida Barisson Villares Fragoso, Albain Chansavang, Bruno Ragazzon, Florian Violon, Jérôme Bertherat, Anna Vaczlavik, Maxime Barat, Helaine Charchar, Fanny Chasseloup, Crystal Kamilaris, Stéphanie Espiard
Xuất bản: England: European journal of endocrinology , 2025
Bộ sưu tập: NCBI
ddc:  004.563
 
Editorial [electronic resource] : Biomass Modification, Characterization, and Process Monitoring Analytics to Support Bi...
Tác giả:
Xuất bản: Washington, D.C. : Oak Ridge, Tenn: United States. Dept. of Energy. Office of Science ; Distributed by the Office of Scientific and Technical Information, U.S. Dept. of Energy , 2016
Bộ sưu tập: Báo, Tạp chí
ddc:  666.9
 

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