Laboratory for Diagnostic Genome Analysis ▲ Sign in to save

• ▲ Cornelis L. Harteveld

  Leiden University · Leiden University Medical Center Medicine
  4.63k

  citations

  33

  h-index

  35

  Aachen papers
• ▲ Hermine A. van Duyvenvoorde

  Leiden University · Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  2.2k

  citations

  22

  h-index

  28

  Aachen papers
• ▲ Esther A. R. Nibbeling

  Leiden University Medical Center Biochemistry, Genetics and Molecular Biology
  945

  citations

  15

  h-index

  20

  Aachen papers

3 results

• Hemoglobinopathy screening in primary care in the Netherlands: exploring the problems and needs of patients and general practitioners

  2022 European Journal of Human Genetics article Medicine Hemoglobinopathies and Related Disorders Open access

  6

  citations
• Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions

  2025 Clinical Endocrinology article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access

  2

  citations
• Mouse and cellular models of KPTN -related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes

  2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  1

  citations

3 results