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A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care2022 Journal of Clinical Research in Pediatric Endocrinology article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Aslı Derya Kardelen, Esin Karakılıç Özturan, Şükran Poyrazoğlu, Firdevs Baş, Serdar Ceylaner, Sjoerd D. Joustra, +2 more
2citations -
Mechanical stress regulates bone regulatory gene expression independent of estrogen and vitamin D deficiency in rats2020 Journal of Orthopaedic Research® article Medicine Bone health and osteoporosis research Open access
Huib W. van Essen, Albert Jan van der Veen, Wessel N. van Wieringen, Andrea W. D. Stavenuiter, Ferdy Kurniawan Cayami, Gerard Pals, +4 more
14citations -
The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth2020 Journal of Clinical Research in Pediatric Endocrinology article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Steven Ghanny, Aliza Zidell, Helio F. Pedro, Sjoerd D. Joustra, Monique Losekoot, Jan Maarten Wit, +1 more
6citations -
Immunoglobulin Replacement Therapy Versus Antibiotic Prophylaxis as Treatment for Incomplete Primary Antibody Deficiency2020 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Bas M. Smits, Ilona Kleine Budde, Esther de Vries, Ineke J. M. ten Berge, Robbert G. M. Bredius, Marcel van Deuren, +10 more
20citations -
Riboflavin transporter deficiency in young adults unmasked by dietary changes2024 JIMD Reports article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, Felix Distelmaier, Ana Pop, Nicole I. Wolf, +1 more
1citations -
Alpha-1 antitrypsin deficiency associated with increased risk of venous thromboembolism: a nationwide cohort study in Denmark2026 Research and Practice in Thrombosis and Haemostasis article Medicine Venous Thromboembolism Diagnosis and Management Open access
Sine Voss David, Malin Fromme, Katharina Remih, Børge Grønne Nordestgaard, Pavel Strnad, Morten Dahl
0citations -
Prevalence of mismatch repair deficiency and Lynch syndrome in a cohort of unselected small bowel adenocarcinomas2020 Journal of Clinical Pathology article Medicine Genetic factors in colorectal cancer Open access
Manon Suerink, Diantha Terlouw, Hristina Hristova, Lily Sensuk, Demi van Egmond, Arantza Fariña Sarasqueta, +4 more
18citations -
Pyridoxine or pyridoxal‐5‐phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study2022 Developmental Medicine & Child Neurology article Medicine Epilepsy research and treatment Open access
Allan Bayat, Ángel Aledo‐Serrano, António Gil‐Nagel, Christian M. Korff, Ashley E. Thomas, Christian M. Boßelmann, +5 more
16citations -
Zinc deficiency impairs the development of human regulatory B cells from purified B cells2024 Journal of Trace Elements in Medicine and Biology article Immunology and Microbiology T-cell and B-cell Immunology Open access
Mary-Ann Puppa, Sabrina Bianca Bennstein, Henrike Josephine Fischer, Lothar Rink
6citations -
Biochemical profiling and symptomatology of androgen deficiency in males with cluster headache: A prospective case–control study2026 Headache The Journal of Head and Face Pain article Medicine Migraine and Headache Studies Open access
Willemijn C. Naber, Roemer B. Brandt, Mariël Léon Morales-Grooters, Ronald van der Wal, Sjoerd A. A. van den Berg, Jelle J. Goeman, +2 more
0citations