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• ▲ M. Carola Zillikens

  Medicine
  43.3k

  citations

  88

  h-index

  2

  Aachen papers
• ▲ Christine Poitou

  Medicine
  21.4k

  citations

  74

  h-index

  9

  Aachen papers
• ▲ Elisabeth F. C. van Rossum

  Erasmus MC · Erasmus University Rotterdam Neuroscience
  16.1k

  citations

  68

  h-index

  1

  Aachen papers
• ▲ Luis Antonio Castaño

  University of the Basque Country · Instituto de Salud Carlos III Biochemistry, Genetics and Molecular Biology
  12.2k

  citations

  52

  h-index

  10

  Aachen papers
• ▲ Aart Jan van der Lely

  Erasmus MC Medicine
  12k

  citations

  54

  h-index

  5

  Aachen papers
• ▲ Charlotte Höybye

  Karolinska University Hospital · Karolinska Institutet Medicine
  5.43k

  citations

  41

  h-index

  10

  Aachen papers
• ▲ Muriel Coupaye

  Université Paris Cité · Hôpital Louis-Mourier Medicine
  5.27k

  citations

  42

  h-index

  3

  Aachen papers
• ▲ Graziano Grugni

  IRCCS Istituto Auxologico Italiano · Istituti di Ricovero e Cura a Carattere Scientifico Biochemistry, Genetics and Molecular Biology
  4.82k

  citations

  40

  h-index

  9

  Aachen papers
• ▲ Arianne B. Dessens

  Biochemistry, Genetics and Molecular Biology
  1.85k

  citations

  22

  h-index

  1

  Aachen papers
• ▲ Itxaso Rica

  Instituto de Salud Carlos III · BioCruces Health research Institute Medicine
  1.57k

  citations

  23

  h-index

  4

  Aachen papers
• ▲ Laura C. G. de Graaff

  Erasmus MC · Radboud University Medical Center Medicine
  938

  citations

  19

  h-index

  13

  Aachen papers
• ▲ Idoia Martinez de la Piscina

  University of Bern · University Hospital of Bern Biochemistry, Genetics and Molecular Biology
  517

  citations

  14

  h-index

  9

  Aachen papers
• ▲ Gema Grau

  Hospital de Cruces Biochemistry, Genetics and Molecular Biology
  326

  citations

  11

  h-index

  2

  Aachen papers
• ▲ Amaia Vela

  University of the Basque Country · Instituto de Salud Carlos III Biochemistry, Genetics and Molecular Biology
  323

  citations

  11

  h-index

  3

  Aachen papers

14 results

• Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

  2024 EBioMedicine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

  42

  citations
• Hypogonadism in Women with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion

  2021 Journal of Clinical Medicine article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  29

  citations
• Hypogonadism in Adult Males with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion

  2021 Journal of Clinical Medicine article Medicine Hormonal and reproductive studies Open access

  28

  citations
• Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature

  2022 Journal of Clinical Medicine article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  22

  citations
• Bone Health in Adults With Prader–Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study

  2022 The Journal of Clinical Endocrinology & Metabolism article Medicine Bone health and osteoporosis research Open access

  20

  citations
• Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review

  2023 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  13

  citations
• Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

  2023 PLoS ONE article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

  11

  citations
• Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study

  2025 EBioMedicine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

  9

  citations
• Associations Between Fatigue and Endocrine and Non-endocrine Health Problems in Turner Syndrome: Cohort Study and Review

  2023 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access

  6

  citations
• Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1

  2024 Frontiers in Endocrinology article Medicine Neurofibromatosis and Schwannoma Cases Open access

  3

  citations
• NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor

  2024 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

  3

  citations
• The NR5A1/SF-1 variant p.Gly146Ala cannot explain the phenotype of individuals with a difference of sex development

  2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

  0

  citations

12 results