Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder von Malfait, Fransiska, Kariminejad, Ariana, Van Damme, Tim, Gauche, Caroline, Syx, Delfien, Merhi-Soussi, Faten, Gulberti, Sandrine, Symoens, Sofie, Vanhauwaert, Suzanne, Willaert, Andy, Bozorgmehr, Bita, Kariminejad, Mohamad Hasan, Ebrahimiadib, Nazanin, Hausser, Ingrid, Huysseune, Ann, Fournel-Gigleux, Sylvie, De Paepe, Anne

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Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway von Acuna-Hidalgo, Rocio, Schanze, Denny, Kariminejad, Ariana, Nordgren, Ann, Kariminejad, Mohamad Hasan, Conner, Peter, Grigelioniene, Giedre, Nilsson, Daniel, Nordenskjöld, Magnus, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Kayserili, Hülya, Elcioglu, Nursel, Ghaderi-Sohi, Siavash, Goodarzi, Payman, Setayesh, Hamidreza, van de Vorst, Maartje, Steehouwer, Marloes, Pfundt, Rolph, Krabichler, Birgit, Curry, Cynthia, MacKenzie, Malcolm G., Boycott, Kym M., Gilissen, Christian, Janecke, Andreas R., Hoischen, Alexander, Zenker, Martin

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Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities von Kretz, Rita, Bozorgmehr, Bita, Kariminejad, Mohamad Hasan, Rohrbach, Marianne, Hausser, Ingrid, Baumer, Alessandra, Baumgartner, Matthias, Giunta, Cecilia, Kariminejad, Ariana, Häberle, Johannes

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Amelia, cleft lip, and holoprosencephaly: A distinct entity von Kariminejad, Ariana, Goodarzi, Payman, Asghari‐Roodsari, Alaleh, Kariminejad, Mohamad Hasan

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11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features von Kariminejad, Ariana, Kariminejad, Roxana, Tzschach, Andreas, Najafi, Hamid, Ahmed, Alischo, Ullmann, Reinhard, Ropers, Hans-Hilger, Kariminejad, Mohamad Hasan

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Clinical variability in acro‐cardio‐facial‐syndrome von Kariminejad, Ariana, Bozorgmehr, Bita, Sedighi Gilani, Mohammad Ali, Almadani, Navid, Kariminejad, Mohamad Hasan

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Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran von Kariminejad, Ariana, Barzgar, Mohammadreza, Bozorgmehr, Bita, Keshavarz, Elham, Kariminejad, Mohamad Hasan, S'Aulis, Dana, Rizzo, William B.

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Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts von Kariminejad, Ariana, Rajaee, Ahmad, Ashrafi, Mahmoud Reza, Alizadeh, Houman, Tonekaboni, Seyed Hasan, Malamiri, Reza Azizi, Ghofrani, Mohamad, Karimzadeh, Parvaneh, Mohammadi, Mohsen Molla, Baghalshooshtari, Ali, Bozorgmehr, Bita, Kariminejad, Mohamad Hasan, Postma, N, Abbink, Truus E.M, van der Knaap, Marjo S

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Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge? von Kariminejad, Ariana, Bozorgmehr, Bita, Khatami, Alireza, Kariminejad, Mohamad-Hasan, Giunta, Cecilia, Steinmann, Beat

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Amelia, cleft lip, and holoprosencephaly: A distinct entity von Kariminejad, Ariana, Goodarzi, Payman, Asghari-Roodsari, Alaleh, Kariminejad, Mohamad Hasan

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Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge? von Kariminejad, Ariana, Bozorgmehr, Bita, Khatami, Alireza, Kariminejad, Mohamad-Hasan, Giunta, Cecilia, Steinmann, Beat

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Clinical variability in acro-cardio-facial-syndrome von Kariminejad, Ariana, Bozorgmehr, Bita, Sedighi Gilani, Mohammad Ali, Almadani, Navid, Kariminejad, Mohamad Hasan

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