Publications by authors named "K Monastiri"

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Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007-2021).
Wiem Zidi, Sameh Hadj-Taieb, Ichraf Kraoua, Mongia Hachicha, Hassen Seboui, Kamel Monastiri

Arch Pediatr· February 2024

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Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).
Leila Essaddam, Ons Zitouni, Lilia Kraoua, Madiha Trabelsi, Hella Sassi, Kamel Monastiri

J Pediatr Endocrinol Metab· June 2023

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First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.
Rahma Felhi, Kamel Monastiri, Hayet Ben Hamida, Marwa Ammar, Fatma Zohra Chioukh

Int J Dev Neurosci· December 2022

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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, Yavuz Sahin, Aisha Al Shamsi, Kamel Monastiri

Genet Med· October 2022

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Mandibuloacral dysplasia type A in five tunisian patients.
Sakka R, Marmouch H, Trabelsi M, Achour A, Golli M, Monastiri K

Eur J Med Genet· February 2021

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