Výsledky vyhledávání - Mohamad Hasan Kariminejad
- Zobrazuji výsledky 1 - 3 z 3
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1
Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder Autor Fransiska Malfait, Ariana Kariminejad, Tim Van Damme, Caroline Gauche, Delfien Syx, Faten Merhi‐Soussi, Sandrine Gulberti, Sofie Symoens, Suzanne Vanhauwaert, Andy Willaert, Bita Bozorgmehr, Mohamad Hasan Kariminejad, Nazanin Ebrahimiadib, Ingrid Haußer, Ann Huysseune, Sylvie Fournel‐Gigleux, Anne De Paepe
Vydáno 2013Artigo -
2
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB Autor Louise S. Bicknell, Claire Farrington‐Rock, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Almadani, Helen V. Firth, Mohamad Hasan Kariminejad, Chong Ae Kim, Kathryn Leask, Melissa K. Maisenbacher, Ellen Moran, John Pappas, Paolo Prontera, Thomy de Ravel, J. P. Fryns, Elizabeth Sweeney, Alan Fryer, Sheila Unger, Louise C. Wilson, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn, Deborah Krakow, Stephen P. Robertson
Vydáno 2006Artigo -
3
Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway Autor Rocío Acuña‐Hidalgo, Denny Schanze, Ariana Kariminejad, Ann Nordgren, Mohamad Hasan Kariminejad, Peter Conner, Giedre Grigelioniené, Daniel Nilsson, Magnus Nordenskjöld, Anna Wedell, Christoph Freyer, Anna Wredenberg, Dagmar Wieczorek, Gabriele Gillessen‐Kaesbach, Hülya Kayserili, Nursel Elçioğlu, Siavash Ghaderi‐Sohi, Payman Goodarzi, Hamidreza Setayesh, Maartje van de Vorst, Marloes Steehouwer, Rolph Pfundt, Birgit Krabichler, Cynthia J. Curry, Malcolm G. MacKenzie, Kym M. Boycott, Christian Gilissen, Andreas Janecke, Alexander Hoischen, Martin Zenker
Vydáno 2014Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Missense mutation
Mutation
Biochemistry
Cell biology
Chemistry
Compound heterozygosity
Decorin
Dermatan sulfate
Ehlers–Danlos syndrome
Evolutionary biology
Extracellular matrix
Frameshift mutation
Glycosaminoglycan
Heparan sulfate
Keratan sulfate
Medicine
Molecular biology
Pathology
Phenotype
Phosphorylation
Proteoglycan
Serine
Wound healing