H. Jilani

发表

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita

Piercesare Grimaldi, C. Willoughby, D. Martinelli, 2022, Genes.

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

M. Marlais, M. Litwin, L. Weber, 2020, Scientific Reports.

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1

C. Rouzier, L. Ben Jemaa, H. Jilani, 2022, Ophthalmic genetics.

Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis: The first Tunisian case confirmed by next-generation sequencing.

S. Bekri, S. Ben slama, L. Ben Jemaa, 2020, Clinica chimica acta; international journal of clinical chemistry.

Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature

J. Beygo, A. Saâd, K. Buiting, 2021, Molecular genetics & genomic medicine.

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

M. Marlais, L. Weber, D. Mekahli, 2021, Scientific Reports.

Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome

L. B. Jemaa, O. Lascols, H. Jilani, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1

C. Willoughby, A. Avendaño, M. Callea, 2021, Journal of Pediatric Genetics.

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

X. Bertagna, Y. Morel, C. Heinrichs, 2016, European journal of endocrinology.

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

J. Chelly, H. Jilani, S. Hizem, 2017, BMC Medical Genetics.

New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene

S. Abid, H. Bacha, C. Zaied, 2020, BMC Medical Genomics.

Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases.

M. Di Stazio, C. Willoughby, A. Novelli, 2023, Italian journal of dermatology and venereology.

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report

A. Rolfs, H. Jilani, S. Hizem, 2022, Clinical case reports.

Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.

F. Bilan, H. Jilani, S. Hizem, 2023, Ophthalmic genetics.

The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study

L. B. Jemaa, M. Shboul, A. Kaissi, 2021, AIMS Molecular Science.