"rare disease" trang 1 - tải miễn phí từ tailieunhanh
Thyroid acropachy: A rare manifestation of graves disease in joints

Thyroid acropachy: A rare manifestation of graves disease in joints
3    58    0
Genome sequencing as a generic diagnostic strategy for rare disease

Genome sequencing as a generic diagnostic strategy for rare disease
11    12    1
Rare genital malformations in women’s health research: Sociodemographic, regional, and disease-related characteristics of patients with Mayer-Rokitansky-KüsterHauser syndrome

Rare genital malformations in women’s health research: Sociodemographic, regional, and disease-related characteristics of patients with Mayer-Rokitansky-KüsterHauser syndrome
10    51    1
Cutaneous botryomycosis: A rare case report

Cutaneous botryomycosis: A rare case report
4    61    0
GenIO: A phenotype-genotype analysis web server for clinical genomics of rare diseases

GenIO: A phenotype-genotype analysis web server for clinical genomics of rare diseases
6    60    1
Identification of p.HIS119LEU mutation in the G6PC gene of a Vietnamese patient with glycogen storage disease type Ia

Identification of p.HIS119LEU mutation in the G6PC gene of a Vietnamese patient with glycogen storage disease type Ia
8    49    1
Prognostic factors for disease-specific survival in 108 patients with Hürthle cell thyroid carcinoma: A single-institution experience

Prognostic factors for disease-specific survival in 108 patients with Hürthle cell thyroid carcinoma: A single-institution experience
9    57    1
Integrating 400 million variants from 80,000 human samples with extensive annotations: Towards a knowledge base to analyze disease cohorts

Integrating 400 million variants from 80,000 human samples with extensive annotations: Towards a knowledge base to analyze disease cohorts
13    50    1
Gorham-Stout disease of the malleolus: A rare case report

Gorham-Stout disease of the malleolus: A rare case report
6    45    1
Molecular Basis of Pulmonary Disease Insights from Rare Lung Disorders

Molecular Basis of Pulmonary Disease Insights from Rare Lung Disorders
443    63    0
Impulse control disorder and response-inhibition alterations in Parkinson’s disease. A rare case of totally absent functionality of the medial-prefrontal cortex and review of literature

Impulse control disorder and response-inhibition alterations in Parkinson’s disease. A rare case of totally absent functionality of the medial-prefrontal cortex and review of literature
4    63    0
Kawasaki shock syndrome in an Arab female: Case report of a rare manifestation and review of literature

Kawasaki shock syndrome in an Arab female: Case report of a rare manifestation and review of literature
3    70    0
MiR-155, a potential serum marker of extramammary Paget’s disease

MiR-155, a potential serum marker of extramammary Paget’s disease
8    38    1
Anti-synthetase syndrome: A rare and challenging diagnosis for bilateral ground-glass opacities-a case report with literature review

Anti-synthetase syndrome: A rare and challenging diagnosis for bilateral ground-glass opacities-a case report with literature review
6    21    1
Sarcoidosis as a rare cause for symmetrical giant bullous disease

Sarcoidosis as a rare cause for symmetrical giant bullous disease
3    43    1
Anaesthesia and orphan disease: Management of a case of NicolaidesBaraitser syndrome undergoing cleft palate surgery

Anaesthesia and orphan disease: Management of a case of NicolaidesBaraitser syndrome undergoing cleft palate surgery
3    28    1
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing
26    33    3
Sclerosteosis: A rare, sclerosing bone dysplasia in a Bangladeshi male

Sclerosteosis: A rare, sclerosing bone dysplasia in a Bangladeshi male
6    8    1
Glutaric aciduria type 2 presenting in adult life with hypoglycemia and encephalopathic hyperammonemia

Glutaric aciduria type 2 presenting in adult life with hypoglycemia and encephalopathic hyperammonemia
5    5    1
Gemella morbillorum as the culprit organism of post-colonoscopy necrotizing perineal soft tissue infection in a diabetic patient with Crohn’s disease

Gemella morbillorum as the culprit organism of post-colonoscopy necrotizing perineal soft tissue infection in a diabetic patient with Crohn’s disease
5    2    1