絞り込み

16641

広告

「"Clayton-Smith J "[Author]」の検索結果

258件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

Clinical and genetic variability in children with partial albinism.

Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes.

Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Timing Of Primary Surgery for cleft palate (TOPS): protocol for a randomised trial of palate surgery at 6 months versus 12 months of age.

Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.

Congenital cataracts in females caused by BCOR mutations; report of six further families Demonstrating clinical variability and diverse genetic mechanisms.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Delivering effective genetic services for patients and families affected by cleft lip and/or palate.

Diagnosis and Management in Pitt-Hopkins Syndrome: First International Consensus Statement.

Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.

Fetal antiepileptic drug exposure and learning and memory functioning at 6 years of age: The NEAD prospective observational study.

  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