Skip to main content
BackgroundHypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease with preserved or increased ejection fraction in the absence of secondary causes. Mutations in the sarcomeric protein-encoding genes predominantly cause HCM.... more
    • by  and +2
    •   3  
      Medical GeneticsBiological SciencesMedical and Health Sciences
Mutations in the GJB2 gene are a major cause of non‐syndromic recessive hearing loss in many countries. In a significant fraction of patients, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity are... more
    • by 
    •   20  
      Medical GeneticsGap JunctionsBiologyFluorescent Dyes and Reagents
This paper's main contention is that some basically methodological developments in science which are apparently distant and unrelated can be seen as part of a sequential story. Focusing on general inferential and epistemological... more
    • by 
    •   10  
      PhilosophyMedical GeneticsNatural HistoryNineteenth Century
    • by 
    •   18  
      GeneticsMedical GeneticsMultidisciplinaryGene Silencing
    • by 
    •   20  
      Medical GeneticsGenomic ImprintingBiological SciencesHumans
    • by 
    •   19  
      Medical GeneticsBiologyCleft PalateTranscription Regulation
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by defective development of teeth, hair, nails and eccrine sweat glands. Both autosomal dominant and autosomal recessive forms of HED have previously been linked... more
    • by 
    •   20  
      GeneticsMedical GeneticsPolymorphismSweden
    • by 
    •   17  
      GeneticsIntellectual PropertyMedical GeneticsGenomics
    • by 
    •   17  
      GeneticsNursingMedical GeneticsGenomics
Neurodevelopmental disorders (NDs) encompass a spectrum of neuropsychiatric manifestations. Chromosomal regions 1q21.1, 3q29, 15q11.2, 15q13.3, 16p11.2, 16p13.1 and 22q11 harbour rare but recurrent CNVs that have been uncovered as being... more
    • by 
    •   19  
      GeneticsMedical GeneticsSchizophreniaEpilepsy
    • by 
    •   12  
      GeneticsHuman GeneticsMedical GeneticsComplementary and Alternative Medicine
    • by 
    •   7  
      GeneticsMedical GeneticsDyslexiaBiological Sciences
    • by 
    •   8  
      Molecular BiologyMedical GeneticsMolecular GeneticsBiological Sciences
    • by 
    •   17  
      GeneticsMedical GeneticsGenomicsMedicine
    • by 
    •   6  
      Medical GeneticsHumansBiomedical ResearchCroatia
    • by 
    •   6  
      GeneticsMedical GeneticsMedicineClinical Sciences
    • by 
    •   13  
      Medical GeneticsRiskBiological SciencesHumans
In the mid 1980's, two advances revolutionized Medicine in a way that is comparable only to some of the most important events in the approximately 3,000 years of its history. The first was the introduction of the concept of... more
    • by 
    •   12  
      EndocrinologyGeneticsHuman GeneticsMedical Genetics
    • by 
    •   20  
      Medical GeneticsBiological SciencesHumansChild
    • by 
    •   7  
      Medical GeneticsTeratologyHumansRegistries
    • by 
    •   16  
      Medical GeneticsAdolescentSpainBiological Sciences
Aim-To determine the gender using mental foramen as landmark on a panoramic radiographs in selected North Gujarat population. Objective-1. To evaluate and compare the superior border of mental foramen to lower border of mandible(S-L) and... more
    • by 
    •   32  
      Medical SociologyMedical SciencesMedical AnthropologyMedical Informatics
    • by 
    •   7  
      GeneticsMedical AnthropologyMedical GeneticsGenomics
    • by 
    •   11  
      Medical GeneticsSickle Cell AnemiaBiological SciencesHumans
    • by 
    •   2  
      Medical GeneticsBiological Sciences
Background: Postpartum hemorrhage is the most common cause of mortality in women with vaginal or cesarean delivery. WHO statistics shows that about 500 thousands women have died of complications related to pregnancy or during childbirth... more
    • by 
    •   10  
      Medical GeneticsVirologyMedicineCancer Genetics
    • by 
    •   15  
      Medical GeneticsBiological SciencesMental RetardationHumans
    • by 
    •   9  
      BioinformaticsEvolutionary BiologyMedical GeneticsPopulation Genetics
    • by 
    •   14  
      Medical GeneticsMolecular GeneticsGene expressionBiological Sciences
    • by 
    •   8  
      BioinformaticsPsychologyCognitive ScienceMedical Genetics
Patients with hypermobile Ehlers-Danlos syndrome, an hereditary disorder of the connective tissue, often face a long and difficult diagnostic odyssey in pursuit of a name for their condition. Clinicians may dismiss subjective symptoms of... more
    • by 
    •   11  
      BioethicsMedical GeneticsNarrative MedicineRare diseases
    • by  and +1
    •   19  
      GeneticsNursingMedical GeneticsResearch
    • by 
    •   58  
      BiochemistryBioinformaticsNeuroscienceParasitology
    • by 
    •   16  
      BotanyMedical GeneticsGene FlowEvolutionary genetics
The purpose of a new scientific journal is not only to make new knowledge known, but also to stimulate its use for the benefit of all sectors of society. In a delicate intertwining of social balances, in a stormy sea where every voice... more
    • by 
    •   4  
      ImmunologyMedical GeneticsVirologiaCovid-19
    • by 
    •   12  
      Evolutionary BiologyGeneticsHuman EvolutionMedical Genetics
A haplotype map of the human genome The International HapMap Consortium* Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the... more
    • by 
    •   6  
      GeneticsBioethicsMedical GeneticsGenomics
    • by 
    •   13  
      GeneticsMedical GeneticsContinuing Medical EducationHumans
    • by 
    •   7  
      Human GeneticsMedical GeneticsGenomicsMedicine
Our understanding of human evolutionary and population history can be advanced by ecological and evolutionary studies of our parasites. Many parasites flourish only in the presence of very specific human behaviors and in specific... more
    • by 
    •   11  
      Evolutionary BiologyArchaeologyAnthropologyMedical Genetics
    • by 
    •   11  
      Medical GeneticsBritish medical historyBiological SciencesHumans
Los estudiantes inscritos en todos los programas de capacitación en atención médica deben tener una comprensión básica de la genética médica para poder realizar una transición exitosa de estudiantes a médicos.
    • by 
    •   8  
      GeneticsNursingMedical GeneticsMedical Education
Downloaded from www.medrech.com " Rehabilitation of cleft lip and palate patients with a systematic approach " Sherawat Abstract: The oral rehabilitation of lip and palate patients is challenging and many of these patients are suffer if... more
    • by 
    •   32  
      Medical SociologyMedical SciencesMedical AnthropologyMedical Informatics
    • by 
    •   28  
      GeneticsSurgeryEpidemiologyMolecular Biology
The study of inherited monogenic diseases has contributed greatly to our mechanistic understanding of pathogenic mutations and gene regulation, and to the development of effective diagnostic tools. But interest has gradually shifted away... more
    • by 
    •   7  
      GeneticsMedical GeneticsGene regulationHumans
Family studies show that the Huntington's disease gene is linked to a polymorphic DNA marker that maps to human chromosome 4. The chromosomal localization of the Huntington's disease gene is the first step in using... more
    • by 
    •   14  
      GeneticsMedical GeneticsPolymorphismMultidisciplinary
    • by 
    •   8  
      GeneticsMedical GeneticsHumansFemale
    • by 
    •   9  
      BioinformaticsEvolutionary BiologyMedical GeneticsPopulation Genetics
    • by 
    •   11  
      GeneticsMedical GeneticsPopulation GeneticsProtestantism