Houweyda Jilani

NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects

Florence Roucher‐Boulez, Delphine Mallet-Motak, Dinane Samara‐Boustani et al. · European Journal of Endocrinology · 2016 · 94 citations

Life Sciences, Endocrinology, Genetics +17

Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

Kathrin Burgmaier, Leonie Violetta Brinker, Florian Erger et al. · Kidney International · 2021 · 87 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)

Kathrin Burgmaier, Gema Ariceta, Martin Bald et al. · Scientific Reports · 2020 · 28 citations · Full text

Medicine, Nephrology, Pediatrics +14

Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD

Samuel Kilian, Klaus Arbeiter, Anja Büscher et al. · Scientific Reports · 2021 · 27 citations · Full text

Medicine, Nephrology, Pediatrics +17

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

Imen Rejeb, Houweyda Jilani, Yasmina Elaribi et al. · BMC Medical Genetics · 2017 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17