Sevjidmaa Baasanjav

Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

Sevjidmaa Baasanjav, Lihadh Al‐Gazali, Taishi Hashiguchi et al. · The American Journal of Human Genetics · 2011 · 120 citations · Full text

Cardiac Muscle, Cardiomyopathy, Cardiac Reprogramming +10

Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the <i>FBN1</i>‐gene

Luitgard Graul‐Neumann, Tina Kienitz, Peter N. Robinson et al. · American Journal of Medical Genetics Part A · 2010 · 81 citations

Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein

Peter T. Clayton, Björn Fischer‐Zirnsak, Anúska Mann et al. · Nucleus · 2010 · 56 citations · Full text

Genetics, Sterol Reductase, Molecular Biology +20

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family

Sevjidmaa Baasanjav, Aleksander Jamsheer, Mateusz Kolanczyk et al. · BMC Medical Genetics · 2010 · 27 citations · Full text