絞り込み

17056

広告

「Hum Mol Genet[Journal]」の検索結果

11427件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

Pharmacological readthrough of R294X Mecp2 in a novel mouse model of Rett Syndrome.

Whole-Exome Sequencing of a Large Chinese Azoospermia and Severe Oligospermia Cohort Identifies Novel Infertility Causative Variants and Genes.

Ovotesticular disorders of sex development (DSD) in FGF9 mouse models of human synostosis syndromes.

Analysis of putative cis-regulatory elements regulating blood pressure variation.

Early deficits in olfaction are associated with structural and molecular alterations in the olfactory system of a Huntington disease mouse model.

Loss of Snord116 alters cortical neuronal activity in mice: a pre-clinical investigation of Prader-Willi syndrome.

Functional genomics in autoimmune diseases.

Colocalization of Oxtr with Prader-Willi Syndrome transcripts in the trigeminal ganglion of neonatal mice.

The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology.

Emerging functions of Fanconi Anemia genes in replication fork protection pathways.

Androgen receptor variants: RNA-based mechanisms and therapeutic targets.

Whole exome sequencing in patients with Williams-Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk.

Recent advances in Wilms tumor predisposition.

Increased nuclear but not cytoplasmic activities of CELF1 protein leads to muscle wasting.

Genome editing strategies for fetal hemoglobin induction in beta-hemoglobinopathies.

Glucocerebrosidase deficiency promotes release of α-synuclein fibrils from cultured neurons.

Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins.

Transcriptional dysregulation in developing trigeminal sensory neurons in the LgDel mouse model of DiGeorge 22q11.2 deletion syndrome.

Synj1 Haploinsufficiency Causes Dopamine Neuron Vulnerability and alpha-synuclein Accumulation in Mice.

Pmp22 Super-enhancer Deletion Causes Tomacula Formation and Conduction Block in Peripheral Nerves.

  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