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8 Sonuçlar
Expanding the ataxia with oculomotor apraxia type 4 phenotype.
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Ataxia with oculomotor apraxia type 4 (AOA4) is an autosomal recessive (AR) disorder recently delineated in a Portuguese cohort and caused by mutations in the PNKP (polynucleotide kinase 3'-phosphatase) gene.(1) AOA4 is a progressive, complex movement disorder that includes hyperkinetic features,
17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature.
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To date, 6 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability is the core feature, together with minor facial dysmorphisms and obesity. We describe the first case of a young patient with a maternally inherited microduplication in 17p13.1 presenting with
Higher cortical function deficits after stroke: an analysis of 1,000 patients from a dedicated cognitive stroke registry.
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OBJECTIVE
Despite spectacular success of animal model neuroprotective therapy in stroke, these agents have been uniformly unsuccessful in humans. One possible explanation is the crudity of cerebral measurement by insensitive of stroke scales comprising scant or absent higher cortical-function
Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control.
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The main aim of our study was to retrospectively evaluate long-term complications and measure urinary galactose and galactitol excretion in classical galactosemia patients in Estonia who have been treated with a less restricted lactose-free diet and metabolic control. Our study group consisted of
Causes of weight loss in a community nursing home.
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OBJECTIVE
To determine the causes of weight loss in nursing home residents.
METHODS
Retrospective chart review of all weights over the previous 6 months and an in-depth examination of all residents who lost 5 or more pounds over that period.
METHODS
A for-profit community nursing home in an urban
Clinical symptoms and risk factors in cerebral microangiopathy patients.
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OBJECTIVE
Although the clinical manifestation and risk factors of cerebral microangiopathy (CM) remain unclear, the number of diagnoses is increasing. Hence, patterns of association among lesion topography and severity, clinical symptoms and demographic and disease risk factors were investigated
The role of primary cilia in neuronal function.
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The "ciliopathies" are a newly defined group of disorders characterized by defects in the structure or function of the cellular primary cilium. Patients with these disorders display variably expressive fibrocystic renal disease, retinal blindness, polydactyly, obesity, and brain dysgenesis as well
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.
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With the increasing availability and clinical use of exome and whole-genome sequencing, reverse phenotyping is now becoming common practice in clinical genetics. Here, we report a patient identified through the Wellcome Trust Deciphering Developmental Disorders study who has homozygous pathogenic
Bilim tarafından desteklenen en eksiksiz şifalı otlar veritabanı
- 55 dilde çalışır
- Bilim destekli bitkisel kürler
- Görüntüye göre bitki tanıma
- Etkileşimli GPS haritası - bölgedeki bitkileri etiketleyin (yakında)
- Aramanızla ilgili bilimsel yayınları okuyun
- Şifalı bitkileri etkilerine göre arayın
- İlgi alanlarınızı düzenleyin ve haber araştırmaları, klinik denemeler ve patentlerle güncel kalın
Bir belirti veya hastalık yazın ve yardımcı olabilecek bitkiler hakkında bilgi edinin, bir bitki yazın ve karşı kullanıldığı hastalıkları ve semptomları görün.
* Tüm bilgiler yayınlanmış bilimsel araştırmalara dayanmaktadır
