Results 71 to 80 of about 1,273,440 (291)
ABSTRACT Background The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. Methods We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between
Nils Welter +17 more
wiley +1 more source
Medical genetics teaching in Iranian medical schools, especially Ahvaz, south of Iran
Introduction: Physicians have to visit, diagnose and refer patients with genetic disorders, so they need to be familiar with the basics and indications of genetic tests.
MAHDI BIJANZADEH
doaj
Inpatient Food Insecurity and Pediatric Hematology Oncology Hospitalization Outcomes
ABSTRACT Children with cancer and blood disorders are at risk for food insecurity (FI). We aimed to describe the association of inpatient food insecurity (IFI) and hospitalization outcomes among patients admitted to the pediatric hematology oncology service. Of 325 caregivers screened for IFI, 60 (18.6%) screened positive.
Joanna M. Robles +4 more
wiley +1 more source
Genetics and genomic medicine in Sri Lanka
The completion of the Human Genome Project in 2003 heralded in a new era marked by remarkable advances in biomedical research leading to the establishment of genomics‐based translational medicine mainly in the developed world. However, the development of
Nirmala D. Sirisena +1 more
doaj +1 more source
Progress of Education, Research and Services in Medical Genetics, in Some Institutions of Iran [PDF]
The present paper is a review of progress and major activities in education, research, services and ethics in the field of medical genetics in some centers in Iran.
Akhondi, Mohammad Mehdi. +4 more
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Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan +6 more
wiley +1 more source
Implementation of molecular karyotyping in clinical genetics
Rapid development of technologies for the study of the human genome is an expected step after the discovery and sequencing of the entire human genome.
Luca Lovrecic, Borut Peterlin
doaj
Rare neurodevelopmental genetic conditions (NGCs) present with diverse and complex phenotypic manifestations, often resulting in a range of clinical and cognitive difficulties that cut across traditional, categorically defined neurodevelopmental and ...
SJRA Chawner +4 more
doaj +1 more source
Health Care Challenges of Hereditary Common Hematological Disorders in Odisha, India [PDF]
Medical Genetics over the past few decades have emerged as an important and powerful medical specialty with increasing appreciation of its role and function in the biomedical sciences.
Balgir, RS
core +1 more source
Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes
Ali M Sawlan,1 Msaed Alotaibi,1 Rayan M Alharbi,1 Nimr A Alwahbi,1 Manar Alshammary,2 Ali Mohammad Alasmari,2 Fuad Al Mutairi3,4 1College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG ...
Sawlan AM +6 more
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