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「BMC Med Genet[Journal]」の検索結果

2047件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

Prevalence of CCR5delta32 in Northeastern Iran.

Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.

Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders.

Increased risk of aspirin-induced gastric mucosal erosion in elderly Chinese men harboring SLCO1B1*1b/*1b while using aspirin and an ACEI or ARB concomitantly.

Association of PD-1 polymorphisms with the risk and prognosis of lung adenocarcinoma in the northeastern Chinese Han population.

A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report.

Copy number variation is highly correlated with differential gene expression: a pan-cancer study.

Cascade screening for familial hypercholesterolemia-identification of the C308Y mutation in multiple family members and relatives for the first time in mainland China.

A case report and mechanism analysis of a normal phenotype mosaic 47, XXY complicated by paternal iUPD (9) who had a normal PGD result.

Screening and computational analysis of colorectal associated non-synonymous polymorphism in CTNNB1 gene in Pakistani population.

Association of high sensitive C-reactive protein with coronary heart disease: a Mendelian randomization study.

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.

Associations of BAFF rs2893321 polymorphisms with myasthenia gravis susceptibility.

Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report.

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