絞り込み

16639

広告

入院患者18人 特定の抗生物質が効かないVREに感染 奈良 (NHK)

奈良県大和高田市の病院で入院患者18人が、特定の抗生物質が効かないVRE=バンコマイシン耐性腸球菌に感染していたことがわかりました。このうち5人が死亡しましたが...

  1. 新規診断多発性骨髄腫患者に対する導入療法...
  2. 70歳以上の再発・難治性低悪性度非ホジキ...
  3. 若年成人FLT3/ITD変異陽性AMLへ...
  4. 二特異性抗体mosunetuzumabが...

ニュース一覧

「Am J Med Genet[Journal]」の検索結果

22116件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

Corrigendum.

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.

Approach to overgrowth syndromes in the genome era.

Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome.

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).

TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.

X-linked duplication copy number variation in a familial overgrowth condition.

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.

5-HT2AR and BDNF gene variants in eating disorders susceptibility.

Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency.

Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain-related functional pathways.

The NuRD complex and macrocephaly associated neurodevelopmental disorders.

Rare SUZ12 variants commonly cause an overgrowth phenotype.

Variants in nuclear factor I genes influence growth and development.

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.

Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.

Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.

  1. 1
  2. 2
  3. 3
  4. 4
  5. 5
  6. 6
  7. 7
  8. 8
  9. 9
  10. 10
Sort by
※並べ替えは表示に時間がかかります