Publications by authors named "Rym Meddeb"

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Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous missense variant (c.1918C>A, p.(Pro640Thr)): a case report.
Firas Akrout, Ahlem Achour, Carli M J Tops, Richard Gallon, Rym Meddeb

Front Oncol· August 2023

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Phenotype Spectrum in Tunisian Population with NPHP1 Deletion.
Yousra Hammi, Maryem Ferjani, Rym Meddeb, Rania Kacem, Taha Sayari

Indian J Nephrol· May 2023

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Li-Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype-phenotype correlation.
Hela Sassi, Rym Meddeb, Mohamed Aziz Cherif, Chiraz Nasr, Aouatef Riahi

BMC Med Genomics· March 2022

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WDR73-related galloway mowat syndrome with collapsing glomerulopathy.
Mariem El Younsi, Lilia Kraoua, Rym Meddeb, Maryem Ferjani, Médiha Trabelsi

Eur J Med Genet· September 2019

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Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene.
Aouatef Riahi, Hoda Radmanesh, Peter Schürmann, Natalia Bogdanova, Robert Geffers, Rym Meddeb

Int J Cancer· June 2018

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