Maria Mansouri

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death

Najim Lahrouchi, Elisabeth M. Lodder, Maria Mansouri et al. · European Journal of Human Genetics · 2017 · 25 citations · Full text

Medicine, Cardiology, Genetics +14

Further evidence of <i>POP1</i> mutations as the cause of anauxetic dysplasia

Siham Chafai Elalaoui, Fatima Zahra Laarabi, Maria Mansouri et al. · American Journal of Medical Genetics Part A · 2016 · 23 citations

Medicine, Genetics, Molecular Genetics +17

A Novel Nonsense Mutation in SCN9A in a Moroccan Child With Congenital Insensitivity to Pain

Maria Mansouri, Siham Chafai Elalaoui, Bouchra Ouled Amar Bencheikh et al. · Pediatric Neurology · 2014 · 19 citations

Life Sciences, Genetics, Molecular Genetics +9

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report

Siham Chafai-Elalaoui, Matthias Chalon, Nadia Elkhartoufi et al. · Journal of Medical Case Reports · 2015 · 15 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Novel <i>DDR2</i> mutation identified by whole exome sequencing in a Moroccan patient with spondylo‐meta‐epiphyseal dysplasia, short limb‐abnormal calcification type

Maria Mansouri, Hülya Kayserili, Siham Chafai Elalaoui et al. · American Journal of Medical Genetics Part A · 2015 · 12 citations

Life Sciences, Genetics, Molecular Genetics +17