Aneta Gawlik

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

Karl P. Schlingmann, Justyna Ruminska, Martin Kaufmann et al. · Journal of the American Society of Nephrology · 2015 · 270 citations · Full text

Autosomal-recessive Mutations, Metabolic Disorder, Genetics +19

Clinical practice guidelines for the care of girls and women with Turner syndrome

Claus Højbjerg Gravholt, N.H. Andersen, Sophie Christin‐Maître et al. · European Journal of Endocrinology · 2024 · 152 citations · Full text

Reproductive Sciences, Reproductive Health, Neuroendocrinology +19

The External Genitalia Score (EGS): A European Multicenter Validation Study

Saskia van der Straaten, Alexander Springer, Aleksandra Zečić et al. · The Journal of Clinical Endocrinology & Metabolism · 2019 · 119 citations · Full text

Clinical Significance of the Parental Origin of the X Chromosome in Turner Syndrome

Liora Sagi, Nehama Zuckerman‐Levin, Aneta Gawlik et al. · The Journal of Clinical Endocrinology & Metabolism · 2006 · 99 citations · Full text

Multiple variants of obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome – one clinical center case series and the systematic review of 734 cases

Grzegorz Kudela, Agnieszka Wiernik, Agnieszka Drosdzol–Cop et al. · Journal of Pediatric Urology · 2021 · 61 citations

Systematic Review, Urology, Multiple Variants +5