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Moez Gribaa | doi.page

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Moez Gribaa

Hôpital Farhat Hached(TN)University of Sousse(TN)

Publications by Year

Research Areas

Sexual Differentiation and Disorders, Lysosomal Storage Disorders Research, Pancreatic function and diabetes, Trypanosoma species research and implications, Prenatal Screening and Diagnostics

Most-Cited Works

→ Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation(2016)422 cited
→ Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency(2017)153 cited
→ Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder(2004)138 cited
→ Distinguishing the four genetic causes of jouberts syndrome–related disorders(2005)107 cited
→ Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma(2012)86 cited
→ Homozygosity mapping of Marinesco–Sjögren syndrome to 5q31(2003)60 cited
→

An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation

(2009)

57 cited

→ A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23(2007)50 cited

→ Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader–Willi like features and hypotonia(2012)44 cited

→ Placental Mesenchymal Dysplasia with Beckwith–Wiedemann Syndrome Fetus in the Context of Biparental and Androgenic Cell Lines(2008)44 cited