Results 71 to 80 of about 1,175,166 (233)

Clinical practice improvement in the genetics clinic [PDF]

Hereditary Cancer in Clinical Practice, 2012
Quality in health is defined as ‘doing the right thing, the first time, in the right way, and at the right time”. A model for practical quality improvement in the genetic unit will be presented, along with tools and techniques relevant to the practice of clinical genetics, and examples from real life practice.
openaire   +3 more sources

Genetic determinants of cortical structure (thickness, surface area and volumes) among disease free adults in the CHARGE Consortium [PDF]

, 2019
Cortical thickness, surface area and volumes (MRI cortical measures) vary with age and cognitive function, and in neurological and psychiatric diseases.
Adams, H., Ahmad, S., Ames, D., Amin, N., Amouye, P., Andreassen, O., Armstrong, N., Bastin, M., Becker, J., Beiser, A., Bernard, M., Beyer, F., Bis, J., Bralten, J., Brodaty, H., Bülow, R., Carmichael, O., Colodro-Conde, L., Crivello, F., Dale, A., Deary, I., Debette, S., DeCarli, C., Fornage, M., Franz, C., Gillespie, N., Grabe, H., Grasby, K., Harris, M., Hibar, D., Himali, J., Hofer, E., Hofman, A., Ikram, M., Jahanshad, N., Jian, X., Jiang, J., Karama, S., Knol, M., Kremen, W., Kwok, J., Lewis, L., Li, S., Lin, H., Lind, P., Loeffler, M., Logue, M., Longstreth Jr., W., Lopez, O., Luciano, M., Lyons, M., Maillard, P., Maingault, S., Mather, K., Mazoyer, B., Medland, S., Mishra, A., Mosley, T., Neale, M., Niessen, W., Painter, J., Panizzon, M., Paus, T., Pausova, Z., Pike, G., Pirpamer, L., Pizzagalli, F., Psaty, B., Roshchupkin, G., Rotter, J., Saba, Y., Sachdev, P., Satizabal, C., Schmid, R., Schmidt, H., Schofield, P., Scholz, M., Seiler, S., Seshadr, S., Stein, J., Teumer, A., Thalamuthu, A., Thompson, P., Trollor, J., Tzourio, C., Uitterlinden, A., van der Lee, S., van Duijn, C., Vernooij, M., Villringer, A., Völker, U., Wardlaw, J., Wen, W., Witte, A., Wittfeld, K., Wright, M., Xia, R., Yang, Q., Zare, H.   +98 more
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Advances in Clinical Genetics of the Ehlers-Danlos Syndromes

罕见病研究
The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
XU Kexin, LI Guozhuang, LI Qing, YIN Xiangjie, FANG Kun, WU Zhihong, ZHANG Jianguo, DISCO (Deciphering Disorders Involving Scoliosis ＆ COmorbidities) Study Group, WU Nan   +8 more
doaj   +1 more source

The Genetics of Aortopathies in Clinical Cardiology [PDF]

Clinical Medicine Insights: Cardiology, 2017
Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases.
Amit Goyal, Ali R. Keramati, Arya Mani, Jon R. Resar, Matthew J. Czarny   +4 more
openaire   +4 more sources

What\u27s in a Name? New Bacterial Species and Changes to Taxonomic Status from 2012 through 2015 [PDF]

, 2017
Technological advancements in fields such as molecular genetics and the human microbiome have resulted in an unprecedented recognition of new bacterial genus/species designations by the International Journal of Systematic and Evolutionary Microbiology ...
Carroll, Karen C., Munson, Erik
core   +1 more source

Complexities of Clinical Genetics Consultation: An Interprofessional Clinical Skills Workshop

MedEdPORTAL, 2020
Introduction Advances in genomic medicine contribute to increased demand for clinical genetics services and require physicians to understand the interprofessional practice of this field.
Jodi D. Hoffman, Rachel Thompson, Kathleen B. Swenson, Shoumita Dasgupta   +3 more
doaj   +1 more source

Disorders of sex development (DSD): an overview of recent scientific advances [PDF]

, 2014
Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by
Conway, GS
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Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications. [PDF]

, 2015
Fibroblast growth factors (FGFs) and their receptors (FGFRs) are transmembrane growth factor receptors with wide tissue distribution. FGF/FGFR signaling is involved in neoplastic behavior and also development, differentiation, growth, and survival.
Helsten, Teresa, Kurzrock, Razelle, Schwaederle, Maria   +2 more
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Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant

Frontiers in Genetics
Nonketotic hyperglycinemia (NKH) is a rare, autosomal recessive metabolic disorder usually associated with mutations in genes AMT, GLDC or GCSH involved in the glycine cleavage complex.
Victor Marin, Louis Lebreton, Claire Guibet, Claire Guibet, Samir Mesli, Isabelle Redonnet-Vernhet, Mathurin Dexant, Delphine Lamireau, Sandrine Roche, Margaux Gaschignard, Jean Delmas, Henri Margot, Claire Bar   +12 more
doaj   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
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