Ahlem Achour - Dept Congenital & Hereditary Dis, Charles Nicolle Hosp

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论文共 17 篇作者统计合作学者相似作者

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Inheritance of Rare Modifiers Causing Severe Clinical Phenotype in Carriers of SS-Thalassemia; Consequences for Counseling

Cornelis Harteveld,Ahlem Achour,Sandra Arkesteijn,Jeanet ter Huurne,Maaike Verschuren, Sharda Bhagwandien-Bisoen,Rianne Schaap,Linda Vijfhuizen, Hakima el-Idrissi,Tamara Koopmann

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 593-593

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Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia

Cornelis L Harteveld,Ahlem Achour, Nik Fatma Fairuz Mohd Hasan,Jelmer Legebeke,Sandra J G Arkesteijn,Jeanet Ter Huurne,Maaike Verschuren, Sharda Bhagwandien-Bisoen,Rianne Schaap,Linda Vijfhuizen,Hakima El Idrissi,Christian Babbs,Douglas R Higgs, Tamara T Koopmann,Christina Vrettou,Joanne Traeger-Synodinos,Frank Baas, International Hemoglobinopathy Research Network (INHERENT)

International journal of molecular sciencesno. 16 (2024)

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Moderate-severe Beta-Thalassemia Intermedia Phenotype Caused by Sextuplicated Alpha-Globin Gene Allele in Two Beta-Thalassemia Carriers

Ahlem Achour,Jeroen Knijnenburg,Tamara Koopmann, Amir Raz,Marc Tischkowitz,Thomas D. Coates, F. Baas, C. L. Harteveld

AMERICAN JOURNAL OF HEMATOLOGYno. 8 (2024): 1655-1658

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Genetic Study of Alport Syndrome in Tunisia

Mariem El Younsi,Ahlem Achour,Lilia Kraoua, Mezzi Nesrine,Taha Sayari,Ezzeddine Abderrahim, Janet Laabidi,Mohamed Karim Zouaghi,Maher Kharrat,Tahar Gargah,Mediha Trabelsi,Ridha M’rad

Pediatric Nephrologypp.1-14, (2024)

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Constitutional Mismatch Repair Deficiency Syndrome with Atypical Features Caused by a Homozygous MLH1 Missense Variant (c.1918c>a, P.(pro640thr)): a Case Report

Firas Akrout,Ahlem Achour,Carli M. J. Tops,Richard Gallon,Rym Meddeb, Sameh Achoura,Mariem Ben Rekaya,Emna Hamdeni,Soumaya Rammeh,Ridha Chkili,Nada Mansouri,Neila Belguith,Ridha Mrad

Frontiers in oncology（2023）

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The First report of sextuplicated alpha genes in a heterozygote beta thalassemia revealed by a severe beta thalassemia intermedia phenotype

Ahlem Achour,Tamara Koopmann,Jeroen Knijnenburg, Raz Amir,Cornelis Harteveld,Frank Baas

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 162-162

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Clinical and genetic study of Waardenburg syndrome type 1 in Tunisian patients

Sana Skouri,Ahlem Achour, Malek Nouira,Faouzi Maazoul,Valerie Benoit,Besbes Ghazi,Ridha M'rad,Mediha Trabelsi

EUROPEAN JOURNAL OF HUMAN GENETICS（2023）

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Inversion of the Frequencies of Autosomal Recessive and X-Linked Dominant Forms of Alport Syndrome in the Tunisian Population

El Younsi Mariem,Ahlem Achour,Lilia Kraoua, Nesrine Mezzi, Amira Zanati,Taha Sayari,Rahma Mkaouar,Rim Goucha,Ezzeddine Abderrahim, Jannet Laabidi,Mohamed Karim Zouaghi,Maher Kharrat,Faouzi Maazoul,Tahar Gargah,Mediha Trabelsi,Ridha M'rad

crossref（2023）

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Clinical and molecular characteristics of 44 Tunisian patients with Angelman Syndrome

Hana Fredj, Asma Azaza,Lilia Kraoua,Ahlem Achour,Hedia Klaa,Ichraf Kraoua, Melek Trigui,Rym Meddeb,Ines Ouertani,Neila Belghith,Faouzi Maazoul,Ridha Mrad,Madiha Trabelsi

EUROPEAN JOURNAL OF HUMAN GENETICSno. SUPPL 1 (2022): 229-229

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Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome

Lilia Kraoua,Hager Jaouadi,Mohamed Allouche,Ahlem Achour,Hakim Kaouther,Habib Ben Ahmed,Lilia Chaker,Faouzi Maazoul,Fatma Ouarda,Stéphane Zaffran,Ridha M'rad

MOLECULAR GENETICS & GENOMIC MEDICINE（2022）

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