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小児がん患者 拠点病院への集約 十分に進まず (NHK)

子どもが亡くなる病気で最も多い小児がんについて、国は、適切な医療や支援を受けられるようにしようと、全国15か所にある拠点病院への患者の集約を進めていますが、国立...

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  2. 日本原電に3500億円支援 (デイリース...
  3. 「抗菌薬不足」に解決策はあるか? (日経...
  4. ガイドラインにもお国柄あり? (日経BP...

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「Am J Med Genet[Journal]」の検索結果

22051件中 101件~120件表示    検索結果をPubMedで見る PubMedで見る

Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico.

Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.

Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.

Annemarie Sommer memorial.

Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management.

MAP1B related syndrome: Case presentation and review of literature.

Equipoise of recent estimated Down syndrome live births in Japan.

PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.

Risk factors for primary congenital glaucoma in the National Birth Defects Prevention Study.

Impact of genetic subtypes of Prader-Willi syndrome with growth hormone therapy on intelligence and body mass index.

Dental abnormalities in individuals with pathogenic germline variation in DICER1.

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.

A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.

Epidemiology of achondroplasia: A population-based study in Europe.

Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997-2011.

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.

PDGRFB mutation-associated myofibromatosis: Response to targeted therapy with imatinib.

Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.

Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.

A look into the future? Patients' and health care staff's perception and evaluation of genetic information and the right not to know.

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