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A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review

Chengning Tan, Limeng Dai, Zhengqiong Chen, Wuchen Yang et al. • Frontiers in Genetics (2020)

Thrombocytopenia 2 (THC2) is one of the most prevalent forms of inherited thrombocytopenia. It is caused by a heterogeneous group of ANKRD26 gene mutation and shows a heterogeneous clinical and laboratory characteristics. We present a big C...

DOAJ Open Access (DOAJ) DOI: 10.3389/fgene.2020.00340

Surveillance of FAP: a prospective blinded comparison of capsule endoscopy and other GI imaging to detect small bowel polyps

Tescher Paul, Macrae Finlay A, Speer Tony, Stella Damien et al. • Hereditary Cancer in Clinical Practice (2010)

Abstract Background Familial adenomatous polyposis (FAP) is a hereditary disorder characterized by polyposis along the gastrointestinal tract. Information on adenoma status below the duodenum has previously been restricted due to its inacce...

DOAJ Open Access (DOAJ) DOI: 10.1186/1897-4287-8-3

Post-Fire Abundance Trajectories of Bird Species and Functional Groups Within an Atlantic–Mediterranean Ecotone

Fernando García-Fernández, Jesús Domínguez, Alberto Gil-Carrera, Luis Tapia et al. • Fire (2026)

The Atlantic–Mediterranean ecotone of northwestern Iberia is one of the most fire-prone regions in Europe, yet post-fire avian dynamics there remain poorly documented. To characterise short- to mid-term post-fire avian trajectories in this ...

DOAJ Open Access (DOAJ) DOI: 10.3390/fire9090400

Genetic analysis of suicide: a sample study in Tuscany (Central Italy)

Martina Focardi, Barbara Gualco, Vilma Pinchi, Norelli Gian-Aristide et al. • Forensic Sciences Research (2022)

Many studies have examined the genetic contribution to suicide. However, data on suicide in the Italian population are scarce. We therefore aimed to address this gap by investigating a cohort of 111 Italians for whom a verdict of suicide ha...

DOAJ Open Access (DOAJ) DOI: 10.1080/20961790.2020.1835156

Generation of human induced pluripotent stem cell line MHHi040-A from a female Fabry disease patient carrying c.644A>G missense mutation

Carla Borisch, Nick Heise, Kristina Sonnenschein, Nataliya Di Donato et al. • Stem Cell Research (2026)

Fabry disease (FD) is an X-linked, monogenic lysosomal storage disorder, caused by mutations in the GLA gene. GLA encodes the lysosomal hydrolase alpha-galactosidase A and enzyme deficiency leads to accumulation of its substrate globotriaos...

DOAJ Open Access (DOAJ) DOI: 10.1016/j.scr.2026.104064

Functional annotation of the human retinal pigment epithelium transcriptome

Gorgels Theo GMF, van der Spek Peter J, Verkerk Annemieke JMH, Essing Anke HW et al. • BMC Genomics (2009)

Abstract Background To determine level, variability and functional annotation of gene expression of the human retinal pigment epithelium (RPE), the key tissue involved in retinal diseases like age-related macular degeneration and retinitis ...

DOAJ Open Access (DOAJ) DOI: 10.1186/1471-2164-10-164

Genomic evolution and stability of the mcr-1-harboring IncI2 plasmid in the presence and absence of colistin

Cong Shen, Meina Wu, Minxuan Su, Hao Wu et al. • BMC Genomics (2025)

Abstract Background The emergence of plasmid-mediated colistin resistance, primarily driven by the mcr-1 gene, represents a major global health threat. IncI2 plasmids, one of the leading carriers of mcr-1, have been frequently recovered fro...

DOAJ Open Access (DOAJ) DOI: 10.1186/s12864-025-12325-y

Introduction to Quantitative Genetics

S. P.B. • Poultry Science (1963)

Falconer, D. S., Introduction to Quantitative Genetics , The Ronald Press Company, New York. 364 pp. $6.00. The author’s aim is, “to provide an introductory textbook of quantitative genetics, with emphasis on general principles rather than ...

OPENALEX cc-by-nc-nd DOI: https://doi.org/10.3382/ps.0420547

Advances in genetics

M. Demerec, Ernst W. Caspari, John Marion Thoday, John G. Scandalios et al. • Advances in genetics (1947)

Advances in Genetics provides the latest information on the rapidly evolving field of genetics, presenting new medical breakthroughs that are occurring as a result of advances in our knowledge of the topic. The book continually publishes im...

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Genetics of populations

Philip W. Hedrick (1983)

The Fourth Edition of Genetics of Populations is the most current, comprehensive, and accessible introduction to the field for advanced undergraduate and graduate students, and researchers in genetics, evolution, conservation, and related f...

OPENALEX

Calidad de las aguas meteóricas en la ciudad de Itajubá, Minas Gerais, Brasil

Herlane Costa Calheiros, Mônica Regina Gomes, Percy Máximo Anco Estrella • Revista Ambiente & Água (2014)

El objetivo de este estudio fue evaluar la calidad del agua meteórica en la ciudad de Itajubá, ubicado en la parte sur de Minas Gerais, Brasil. Para ello, se realizaron la colecta y análisis de la calidad de las muestras de agua de lluvia d...

DOAJ Open Access (DOAJ) DOI: 10.4136/ambi-agua.1329

Long-term farmland abandonments remarkably increased the phytolith carbon sequestration in soil

Linjiao Wang, Xiang Gao, Maoyin Sheng • Carbon Balance and Management (2025)

Abstract Background Phytolith-occluded organic carbon (PhytOC) is an important mechanism of long-term stable carbon sinks in terrestrial ecosystems. Farmland abandonment is a widespread land use change in the process of urbanization and ind...

DOAJ Open Access (DOAJ) DOI: 10.1186/s13021-025-00312-5

Anthropology Art and Aesthetics

(1992)

Abstract This collection of essays on anthropological approaches to art and aesthetics is the first in its field to be published for some time. In recent years a number of new galleries of non-Western art have been opened, many exhibitions ...

OPENALEX DOI: https://doi.org/10.1093/oso/9780198277330.001.0001

Anthropological Theory

David Kaplan • Routledge eBooks (2017)

Anthropological theory has been much discussed in recent years, yet the crucial questions still remain--how can it be defined, how is it developed, how is it to be applied, and how can one confirm it? The editors of Anthropological Theory a...

OPENALEX DOI: https://doi.org/10.4324/9781315082271