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「Mol Genet Genomic Med[Journal]」の検索結果

1205件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

Utilization of health information technology among cancer genetic counselors.

Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome.

A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21.

Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.

The role of sodium channels in sudden unexpected death in pediatrics.

Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.

MicroRNA-383 inhibits proliferation, migration, and invasion in hepatocellular carcinoma cells by targeting PHF8.

Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutations.

Indeterminate thyroid nodules in the era of molecular genomics.

Preliminary study on the function of the POLD1 (CDC2) EXON2 c.56G>A mutation.

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.

Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.

A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.

Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?

Children from nuclear families with bad parental relationship could develop tic symptoms.

The pedigree analysis and prenatal diagnosis of Hong Kongαα Thalassemia and the sequence analysis of Hong Kongαα Allele.

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies.

Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.

Clinical and genetic analysis of five Chinese patients with urea cycle disorders.

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