• Nenhum resultado encontrado

[PDF] Top 20 Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

Has 10000 "Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families." found on our website. Below are the top 20 most common "Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.".

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

... frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is ...50% of the families carry mutations ... See full document

10

Investigation of the GJB6 Deletion Mutations Del (GJB6- D13s1830) and Del (GJB6-D13s1854) in Iranian Patients with Autosomal-Recessive Non-Syndromic Hearing Loss (ARNSHL)

Investigation of the GJB6 Deletion Mutations Del (GJB6- D13s1830) and Del (GJB6-D13s1854) in Iranian Patients with Autosomal-Recessive Non-Syndromic Hearing Loss (ARNSHL)

... Hearing loss (HL) is the most common inherited sensory disorder affecting about 1 in 1000 ...nonsyndromic autosomal recessive HL is on chromosome 13q11 ...co-expressed in the ... See full document

6

Genetic hearing loss: a study of 228 Brazilian patients

Genetic hearing loss: a study of 228 Brazilian patients

... confirmed genetic hearing loss, in order to determine the clinical and genetic diagnoses and etiology of each ...found in 146 patients (64%) belonging to 112 ... See full document

4

Rev. Bras. .  vol.74 número5 en v74n5a15

Rev. Bras. . vol.74 número5 en v74n5a15

... frequency of mitochondrial mutations also differs among populations; the A1555G mutation is found mostly in patients with maternally inherited hea- ring loss, although it has been sporadically ... See full document

6

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

... study of KCNQ4 mutations was carried out to 1) determine the prevalence by unbiased population-based genetic screening, 2) clarify the mutation spectrum and genotype/phenotype correlations, and 3) ... See full document

9

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

... expressed in the inner ear sensory cells [18]. Mice carrying a mutation of the orthologous gene (COMT2) suffer from vestibular dysfunction, profound deafness and progressive degeneration of the organ ... See full document

6

Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss.

Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss.

... components of eukaryotic cells, and serve as paracellular barriers and zippers between adjacent ...functioning of the organ of Corti, a part of the inner ear that causes loss of ... See full document

6

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed

... Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological ...disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, ... See full document

4

J. Pediatr. (Rio J.)  vol.92 número1

J. Pediatr. (Rio J.) vol.92 número1

... involvement of other joints, hip dislocation and subluxation was observed in 14 cases (28%), and joint hypermobility with hyperflex- ion were present in two ...variety of congenital ... See full document

7

Acidose tubular renal distal em crianças e adolescentes

Acidose tubular renal distal em crianças e adolescentes

... rickets in children, or short stature and osteomalacia in adults. In the past decade, remarkable progress has been made in our understanding of the molecular pathogenesis of RTA ... See full document

130

Braz. j. .  vol.77 número6 en v77n6a07

Braz. j. . vol.77 número6 en v77n6a07

... Sensorineural hearing loss was more frequent in the 7 to 9 year age ...group. In these subjects, hearing loss was detected in school ...screening. In public ... See full document

5

Braz. j. .  vol.75 número3

Braz. j. . vol.75 número3

... prevalence of notches in NIHL in the left ears that we noticed in timber and marble workers may, at least partially, be explained by the fact that, contrary to what was observed in ... See full document

7

J. Pediatr. (Rio J.)  vol.89 número2 en v89n2a06

J. Pediatr. (Rio J.) vol.89 número2 en v89n2a06

... prevalence of OC in Paraná. The charts of all 1,198 patients attended to at CAIF who were born between the years 2002 to 2008, whether or not evaluated by the clinical geneticist, were ...place ... See full document

8

Clinics  vol.62 número4

Clinics vol.62 número4

... cases of reces- sive Omodysplasia and made an excellent review of the lit- erature based on these patients and on 16 other previously reported cases, thus improving knowledge regarding the natural course ... See full document

4

Genes involved in the development of Parkinson

Genes involved in the development of Parkinson

... the non-motor symptoms of Parkinson’s disease, that can develop before the appearance of the fi rst motor signs, are cognitive symptoms that can lead to dementia, partial loss of smell ... See full document

13

Diagnóstico genético de duas famílias com casos de Acidose tubularrenal distal por meio de Whole-Exome Sequencing

Diagnóstico genético de duas famílias com casos de Acidose tubularrenal distal por meio de Whole-Exome Sequencing

... located in exons leading to structural alterations in proteins and functional changes ...(3). In this way, whole-­‐exome analyzes these exons in a rapid and cost-­‐effective manner, allowing ... See full document

81

CoDAS  vol.28 número4

CoDAS vol.28 número4

... severity of voice disorders, and laryngeal diagnosis in patients with voice disorders”, investigated the association between the frequency of occurrence of vocal symptoms, the intensity ... See full document

2

Rev. CEFAC  vol.17 número6

Rev. CEFAC vol.17 número6

... lation in the intima and thickening of the basal membrane of capillaries and small blood ...walls of capillaries, and indirectly, by reducing the low in a narrowed vasculature, or even ... See full document

6

Rev. CEFAC  vol.17 número4

Rev. CEFAC vol.17 número4

... inclusion of studies with high levels of evidence, that is, systematic reviews or meta-analyzes and randomized clinical ...number of scientiic articles would be reduced and other relevant information ... See full document

6

PREVALENCE OF HEARING LOSS IN ADOLESCE N T SMOKERS

PREVALENCE OF HEARING LOSS IN ADOLESCE N T SMOKERS

... activity in the ...form of hearing loss than non- smokers and the loss is directly related to the number of smoking ...develop hearing loss as compared to ... See full document

6

Show all 10000 documents...