Results 11 to 20 of about 687,041 (305)

Clinical genetics in transition-a comparison of genetic services in Estonia, Finland, and the Netherlands. [PDF]

J Community Genet, 2021
Genetics has traditionally enabled the reliable diagnosis of patients with rare genetic disorders, thus empowering the key role of today’s clinical geneticists in providing healthcare.
Vrijenhoek T, Tonisson N, Kääriäinen H, Leitsalu L, Rigter T.   +4 more
europepmc   +2 more sources

Impact of NICE Guideline NG241 'Ovarian Cancer: identifying and managing familial and genetic risk' on a regional NHS family history and clinical genetics service. [PDF]

J Med Genet
BACKGROUND: NICE Guideline NG241: identifying and managing familial and genetic risk of ovarian cancer (OC) was published by the National Institute for Health and Care Excellence (NICE) in March 2024.
Roe A, Forman A, Lalloo F, McVeigh TP, Hanson H, Snape K.   +5 more
europepmc   +3 more sources

The Experience of a Tertiary Reference Hospital in the Study of Rare Neurological Diseases

Medicina, 2023
Background and Objectives: Rare diseases (RDs) are life-threatening or chronically impairing conditions that affect about 6% of the world’s population. RDs are often called ‘orphan’ diseases, since people suffering from them attract little support from ...
Styliani-Aggeliki Sintila, Marina Boziki, Christos Bakirtzis, Thomai Stardeli, Nikoletta Smyrni, Ioannis Nikolaidis, Dimitrios Parissis, Theodora Afrantou, Theodore Karapanayiotides, Ioanna Koutroulou, Virginia Giantzi, Paschalis Theotokis, Evangelia Kesidou, Georgia Xiromerisiou, Efthimios Dardiotis, Panagiotis Ioannidis, Nikolaos Grigoriadis   +16 more
doaj   +1 more source

The European Society of Human Genetics-Young committee- activities and achievements between 2019-2022 [PDF]

, 2023
The European Society of Human Genetics-Young Committee (ESHG-Y) aims to support young human geneticists by developing strategies and programs for better education and creating a strong network in all European countries.
Avram, Elena, da Silva, Ana Raquel Gouveia Freitas, Tonini, Francesca, Committee, European Society of Human Genetics-Young, Săbău, Ileana Delia, Kalantari, Silvia, Cerqueira, Juliana Xavier de Miranda, de Miranda Cerqueira, Juliana Xavier, Dore, Rhys, Ding, Can, Noor, Nuru, Mroczek, Magdalena, -, -, Johari, Mridul, Sabau, Ileana-Delia, Barbosa-Matos, Rita   +15 more
core   +1 more source

Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature

Frontiers in Genetics, 2021
Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated with intellectual disability, developmental delay, failure to thrive and congenital anomalies.
Ruizhi Deng, Melysia T. McCalman, Thomas P. Bossuyt, Tahsin Stefan Barakat   +3 more
doaj   +1 more source

Clinical Genetics: A Review [PDF]

Journal of the Royal College of Physicians of London, 1988
Burn, John
openaire   +3 more sources

Community genetics. Its definition 2010 [PDF]

, 2010
This paper presents a definition of the medical field of community genetics. It starts with a brief historical overview, defines the requirements for an adequate definition, presents the definition, and discusses the constituent parts of the ...
Kate, L.P. ten, Hamamy, H., Arnold Christianson, Ulf Kristoffersson, Lihadh Al-Gazali, Rahman, P., Jean-Jacques Cassiman, Marais, A.D., Kate, L.P., Proton Rahman, Kristoffersson, U., Victor B. Penchaszadeh, Bittles, A., Cornel, M.C., ten Kate, L.P., Kääriäinen, H., Cassiman, J.J., Christianson, A., Hanan Hamamy, Al-Gazali, L., Schmidtke, J., David Marais, Leo P. ten Kate, Jörg Schmidtke, Helena Kääriäinen, Martina C. Cornel, Anand, S., Penchaszadeh, V.B., Alan Bittles, Sonia Anand, Marais, D., Cassiman, J-J, Leo P. ten Kate   +32 more
core   +2 more sources

Genetics in clinical oncology [PDF]

The Indian Journal of Pediatrics, 1982
This is the first book to provide a thorough grounding in the applications of genetics to cancer medicine, enabling the clinician to convey to patients and their families an understanding of the genetic nature of cancer, and to provide them with accurate advice.
openaire   +2 more sources

Diagnostically relevant facial gestalt information from ordinary photos

eLife, 2014
Craniofacial characteristics are highly informative for clinical geneticists when diagnosing genetic diseases. As a first step towards the high-throughput diagnosis of ultra-rare developmental diseases we introduce an automatic approach that implements ...
Quentin Ferry, Julia Steinberg, Caleb Webber, David R FitzPatrick, Chris P Ponting, Andrew Zisserman, Christoffer Nellåker   +6 more
doaj   +1 more source

Analysis of Gene-Environment Interactions Related to Developmental Disorders

Frontiers in Pharmacology, 2022
Various genetic and environmental factors are associated with developmental disorders (DDs). It has been suggested that interaction between genetic and environmental factors (G × E) is involved in the etiology of DDs.
Yuhei Nishimura, Kenji Kurosawa, Kenji Kurosawa   +2 more
doaj   +1 more source