Results 41 to 50 of about 712,245 (264)

Genetic Factors in Febrile Seizures

open access: yesPediatric Neurology Briefs, 1992
Population based twin panels containing 14,352 twin pairs established in Norway and Virginia were used to study the occurrence of febrile seizures and epilepsy at the Departments of Human Genetics and Neurology, Medical College of Virginia, Virginia ...
J Gordon Millichap
doaj   +1 more source

Improved Early Referral in Long‐Term Survivor Care With Institutional Standardized Practice Among Childhood Leukemia Survivors#

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT In 2018, the Texas Children's Cancer and Hematology Center Leukemia Program implemented a practice standard to support the transition from treatment to survivorship that includes shared, alternating care between leukemia and survivorship clinicians and a reminder to refer survivors to the long‐term survivor clinic (LTSC) 2 years after ...
Ji Yun Tark   +9 more
wiley   +1 more source

Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall   +2 more
wiley   +1 more source

Identifying knowledge deficiencies in genetics education among medical students and interns in Saudi Arabia- A cross-sectional study

open access: yesBMC Medical Education
Background Understanding genetics is crucial for medical students, particularly in Saudi Arabia, where genetic disorders are prevalent owing to high rates of consanguineous marriages.
Abeer F. Zakariyah   +5 more
doaj   +1 more source

Rapid and inexpensive body fluid identification by RNA profiling-based multiplex High Resolution Melt (HRM) analysis [v2; ref status: indexed, http://f1000r.es/314]

open access: yesF1000Research, 2014
Positive identification of the nature of biological material present on evidentiary items can be crucial for understanding the circumstances surrounding a crime.
Erin K. Hanson, Jack Ballantyne
doaj   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo   +5 more
wiley   +1 more source

The Design and Consideration of Medical Genetics Training Courses for Clinical Physicians Specializing in Rare Diseases

open access: yes罕见病研究
The diagnosis and treatment of rare diseases have long been significant challenges in the medical practice. With the rapid development of genomics and genetics, medical genetics has been widely applied in the diagnosis and treatment of rare diseases ...
LIU Yaping, SHEN Min, ZHANG Shuyang
doaj   +1 more source

Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles [version 1; referees: 2 approved]

open access: yesF1000Research, 2015
The study of primary cilia is of broad interest both in terms of disease pathogenesis and the fundamental biological role of these structures. Murine models of ciliopathies provide valuable tools for the study of these diseases.
Simon Ramsbottom   +2 more
doaj   +1 more source

Medical Genetics in Peru

open access: yesPublic Health Genomics, 2004
Peru has a growing population characterized by notorious socioeconomic differences. The main health problems are acquired diseases related to sanitary conditions that affect mainly the large segment afflicted by poverty and extreme poverty. The state’s health policy does not contemplate any action on congenital or genetic conditions, and genetic ...
openaire   +2 more sources

Health Literacy, Self‐Efficacy and Knowledge of Sickle Cell Disease Among Caregivers

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) is a hereditary blood disorder in which abnormal haemoglobin leads to severe anaemia, painful crises and organ failure. Caregivers’ health literacy (HL) – their ability to assess, understand and apply information, and interact with healthcare professionals – is crucial for managing children with SCD, yet ...
Melanie Bruinooge   +6 more
wiley   +1 more source

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