Results 71 to 80 of about 1,273,440 (291)

The Fate (Outcome) of Clinically Apparent Single Lesion and Oligofocal Nephroblastomatosis Treated According to SIOP/GPOH Protocols for Wilms Tumor

open access: yesPediatric Blood &Cancer, EarlyView.
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

open access: yesJournal of Advances in Medical Education and Professionalism, 2014
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

open access: yesPediatric Blood &Cancer, EarlyView.
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

open access: yesMolecular Genetics & Genomic Medicine, 2019
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]

open access: yes, 2009
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
core   +1 more source

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

open access: yesPediatric Blood &Cancer, EarlyView.
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

open access: yesZdravniški Vestnik, 2013
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  

Dimensional phenotype measurement in children with rare genetic conditions: new insights into the aetiology of neurodevelopmental and psychiatric disorders

open access: yesFrontiers in Psychiatry
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]

open access: yes, 2012
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

open access: yesThe Application of Clinical Genetics
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
doaj  

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