Mohamad Hasan Kariminejad

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Rocío Acuña‐Hidalgo, Denny Schanze, Ariana Kariminejad et al. · The American Journal of Human Genetics · 2014 · 154 citations · Full text

Life Sciences, Biochemistry, Genetics +13

Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder

Fransiska Malfait, Ariana Kariminejad, Tim Van Damme et al. · The American Journal of Human Genetics · 2013 · 140 citations · Full text

Medicine, Genetics, Molecular Genetics +14

A molecular and clinical study of Larsen syndrome caused by mutations in <i>FLNB</i>

Louise S. Bicknell, Claire Farrington‐Rock, Yousef Shafeghati et al. · Journal of Medical Genetics · 2006 · 129 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Marian A. Kroos, Marianne Hoogeveen‐Westerveld, Helen Michelakakis et al. · Human Mutation · 2012 · 75 citations

Life Sciences, Genetics, Molecular Genetics +17

Elucidating the spectrum of  -thalassemia mutations in Iran

Valeh Hadavi, Amir Hossein Taromchi, Mahdi Malekpour et al. · Haematologica · 2007 · 57 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11