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Ridha M'rad

Tunis University

17

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68

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Autism throughout genetics: Perusal of the implication of ion channels

2018 Brain and behavior
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In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis

2018 Human Mutation
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WDR73-related galloway mowat syndrome with collapsing glomerulopathy

2018 European Journal of Medical Genetics
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Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation

2018 Pediatric Blood & Cancer
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Partial hypopituitarism in a female patient with a 45,X/46,XY mosaicism

2017 Annales D Endocrinologie
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Double Trisomy Mosaicism 48,xxx,+8/46,xx in a Female: The First Reported Case

2016 Genetic Counseling
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Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

2014 Clinical Genetics
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ASPECTS CYTOGÉNÉTIQUES DE L'AUTISME

2009
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Genetic study of two Tunisian Ehlers Danlos syndrome type VI

2000 Genetics in Medicine
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Syndrome of ocular, skeletal & abdominal abnormalities

2000 Genetics in Medicine
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