Results 161 to 170 of about 8,234,469 (246)

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo   +5 more
wiley   +1 more source

Trío Madeira (Brasil)

open access: yes, 2003
Concierto interpretado por el Trío Medeira de Brasil. En 1996 tres excelentes instrumentistas cariocas se unieron y conformaron un trío de cuerdas para interpretar choros y obras de compositores contemporáneos brasileños y extranjeros.
Trío Madeira (Brasil)
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A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa   +4 more
wiley   +1 more source

Central African Republic [cartographic material].

open access: yes, 2001
"Base 802738 (B01340) 2-01"; Map of Central African Republic showing international and prefecture boundaries, national and prefecture capitals, railroads, and roads.; Also available online http://nla.gov.au/nla.map ...
United States. Central Intelligence Agency.
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Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos   +11 more
wiley   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle   +3 more
wiley   +1 more source

Acordo Brasil-Santa Sé

open access: yes, 2009
Pronunciamento -- Mensagem nº 134, de 2009 -- Exposição de motivos -- Acordo entre Brasil e a Santa Sé -- Parecer nº 1.657, de 2009 - CRE -- Decreto legislativo nº 698, de 2009 -- Perguntas e respostas sobre o Acordo Brasil-Santa Sé -- Acordo ...
Collor, Fernando, 1949-
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Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa   +3 more
wiley   +1 more source

Tira Poeira, ensamble instrumental (Brasil)

open access: yes, 2004
Concierto interpretado por Tira Poeira. Esta agrupación está conformada por cinco jóvenes, eminentes instrumentistas, que tienen en común la pasión por el choro y el hábito de frecuentar el barrio de Lapa, en Río de Janeiro, donde todas las tendencias se
Tira Poeira - Ensamble instrumental (Brasil)
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