Mikaël Mathot

<i>GRIN2A</i> -related disorders: genotype and functional consequence predict phenotype

Vincent Strehlow, Henrike Heyne, Danique R.M. Vlaskamp et al. · Brain · 2018 · 229 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo et al. · Molecular Psychiatry · 2022 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations

Katrien Stouffs, Stéphanie Moortgat, Tim Vanderhasselt et al. · European Journal of Medical Genetics · 2018 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Pseudo-Bartter syndrome in a pregnant mother and her fetus

Mikaël Mathot, Pierre Maton, Elisabeth Henrion et al. · Pediatric Nephrology · 2006 · 11 citations · Full text

Medicine, Maternal Health, Obstetrics +13

A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype

Sarah Dorval, Maura Masciadri, Mikaël Mathot et al. · European Journal of Medical Genetics · 2019 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8