“…SUMMARY: Data integration and visualization help geneticists make sense of large amounts of data. To help facilitate interpretation of genetic association data we developed Toppar, a customizable visualization tool that stores results from association studies and enables browsing over multiple results, by combining features from existing tools and linking to appropriate external databases. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…We have made the transcriptome openly accessible for a wider audience of ecologists, molecular biologists, evolutionary geneticists, and others in a user‐friendly format at SuperbaSE, hosted at http://www.krill.le.ac.uk.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…This resource aims to support the pediatrician, neurologist, biochemical, and clinical geneticists in early identification of treatable inborn errors of metabolism in a child with seizures, allowing for timely initiation of targeted therapy with the potential to improve outcomes.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…In humans, however, geneticists contend that EPP is negligible and relatively invariable. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Summarizing and visually representing these patterns of diversity has been a persistent goal for human geneticists, and has revealed that genetic differentiation is frequently correlated with geographic distance. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Findings imply that, when interpreting parents’ effects on children, environmentalists must consider genetic transmission, but geneticists must also consider environmental transmission.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…CONCLUSION: Multidisciplinary team including obstetricians, pediatric surgeons, geneticists and neonatologists can improve outcome in neonates with NIH.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…This draft genome sequence is a valuable resource to Drosophila geneticists and evolutionary biologists to understand molecular organisation of the genome and its evolution during early stages of speciation.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Through the efforts of a team of physiatrists, geneticists and orthopaedic surgeons, the patient was able to achieve pain-free sitting, independent transitions and short-distance ambulation, which have allowed her to care for herself more effectively and return to her work and activities of daily living.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Our classifier was significantly more accurate than pediatricians or medical geneticists for both types of images and suggests steps for further research involving clinical scenarios and other applications.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Located at the crossroad of the mainland and islands of SEA, Peninsular Malaysia is an important piece of puzzle to the map of peopling and migration history in Asia, a question that is of interest to many anthropologists, archeologists, and population geneticists. This review aims to revisit our understanding to the population genetics of the natives from Peninsular Malaysia and Borneo over the past century based on the chronology of the technology advancement: 1) Anthropological and Physical Characterization; 2) Blood Group Markers; 3) Protein Markers; 4) Mitochondrial and Autosomal DNA Markers; and 5) Whole Genome Analysis. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…With recent publications highlighting novel sequencing technologies as alternatives to conventional cytogenetic approaches, we, an international consortium of laboratory geneticists, pathologists, and oncologists, describe herein the advantages and limitations of both conventional chromosome banding and novel sequencing technologies and share our considerations on crucial next steps to implement these novel technologies in the global clinical setting for a more accurate cytogenetic evaluation, which may provide improved diagnosis and treatment management. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…In the modern era, microarray and exome sequencing are first line tests for clinical geneticists; however, beginning in the late 1970s and continuing until the turn of the past century, a standard genetic evaluation consisted, in many cases, of an examination by a dysmorphologist as well as a conventional karyotype. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…However, like any type of clinical diagnostic reasoning, an organized process of development and consideration of diagnostic hypotheses may guide neurologists and medical geneticists to solve this difficult task. The aim of the present review is to propose a general method for diagnostic reasoning in neurogenetics, with the definition of the main neurological syndrome and its associated topographical diagnosis, followed by the identification of major and secondary neurological syndromes, extraneurological findings, and inheritance pattern. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Respondents were mostly pediatric hematologists-oncologists (PHOs) but included geneticists, genetic counselors, clinic administrators, and nurse practitioners. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…More experienced counselors provided less space to further disclose uncertainty (p < 0.02), and clinical geneticists scored lower on SDM compared with other types of counselors (p < 0.03). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Clinicians should be aware of the possible presence of chromosomal abnormalities in child psychiatric populations; the close collaboration with geneticists and the use of more defined guidelines for cytogenetic investigation are important.…”
Enlace del recurso
Enlace del recurso

“…Molecular geneticists tend to conceptualize disease pathogenesis from the mutated gene outward, an approach that does not take into account the impact of barrier requirements in determining disease phenotype. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…A multidisciplinary team including geneticists, pediatricians, radiologists is certainly needed to approach these patients. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Using this site, population geneticists can perform a variety of powerful statistical tests including Mantel tests, Reduced Major Axis (RMA) regression analysis, as well as calculate F(ST )between all pairs of populations and perform basic summary statistics (e.g., heterozygosity). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso