Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome von Beales, Philip L, Rooryck, Caroline, Diaz-Font, Anna, Osborn, Daniel P S, Chabchoub, Elyes, Hernandez-Hernandez, Victor, Shamseldin, Hanan, Kenny, Joanna, Waters, Aoife, Jenkins, Dagan, Kaissi, Ali Al, Leal, Gabriela F, Dallapiccola, Bruno, Carnevale, Franco, Bitner-Glindzicz, Maria, Lees, Melissa, Hennekam, Raoul, Stanier, Philip, Burns, Alan J, Peeters, Hilde, Alkuraya, Fowzan S

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Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article von Kaissi, Ali Al, Kenis, Vladimir, Shboul, Mohammad, Grill, Franz, Ganger, Rudolf, Kircher, Susanne Gerit

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The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study von Shboul, Mohammad, Sassi, Hela, Jilani, Houweyda, Rejeb, Imen, Elaribi, Yasmina, Hizem, Syrine, Jemaa, Lamia Ben, Hilmi, Marwa, Kircher, Susanna Gerit, Al Kaissi, Ali

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Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome von Kircher, Susanne Gerit, Kenis, Vladimir, Yurasova, Yulia, Kralina, Svetlana, Kozhevnikov, Oleg, Al Kaissi, Ali

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Massive Axial and Appendicular Skeletal Deformities in Connection with Gorham-Stout Syndrome von Kaissi, Ali Al, Bouchoucha, Sami, Shboul, Mohammad, Kenis, Vladimir, Grill, Franz, Ganger, Rudolf, Kircher, Susanne Gerit

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A constellation of orthopaedic deformities in connection with cartilage oligomeric matrix protein mutation von Al Kaissi, Ali, Ghachem, Maher, Kenis, Vladimir, Melchenko, Eugene, Grill, Franz, Ganger, Rudolf, Kircher, Susanne

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Lower limbs deformities in patients with McCune-Albright syndrome: Tomography and treatment von Al Kaissi, Ali, Kenis, Vladimir, Chehida, Farid, Hofstaetter, Jochen, Grill, Franz, Ganger, Rudolf

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Radiographic and Tomographic Study of the Cranial Bones in Children with the Idiopathic Type of West Syndrome von Al Kaissi, Ali, Ryabykh, Sergey, Ben Chehida, Farid, Al Kaissi, Hamza, Dougales, Vasileios, Kenis, Vladimir M, Grill, Franz

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Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome) von Al Kaissi, Ali, Kenis, Vladimir, Melchenko, Eugeniy, Ghachem, Maher, Csepan, Robert, Grill, Franz, Ganger, Rudolf

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Extended phenotypes in a boy and his mother with oto‐palato‐digital‐syndrome type II von Kaissi, Ali Al, Kraschl, Raimund, Kaulfersch, Wilhelm, Grill, Franz, Ganger, Rudolf

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Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome von Kaissi, Ali Al, Zwettler, Elisabeth, Ganger, Rudolf, Schreiner, Simone, Klaushofer, Klaus, Grill, Franz

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Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons von Kaufmann, Lukas, Pilic, Johannes, Auinger, Lisa, Mayer, Anna‐Lena, Blatterer, Jasmin, Semmler‐Bruckner, Johann, Abbas, Safdar, Rehman, Khurram, Ayaz, Muhammad, Graier, Wolfgang F., Malli, Roland, Petek, Erwin, Wagner, Klaus, Al Kaissi, Ali, Khan, Muzammil Ahmad, Windpassinger, Christian

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Turning the backbone into an ankylosed concrete-like structure: Case report von Kaissi, Ali Al, Chehida, Farid Ben, Grill, Franz, Ganger, Rudolf, Kircher, Susanne Gerit

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Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia von Al Kaissi, Ali, Ryabykh, Sergey, Kenis, Vladimir, Ben Chehida, Farid, Al Kaissi, Hamza, Kircher, Susanne Gerit, Grill, Franz

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Spinal and pelvic corrections in a patient with spondylocostal dysplasia syndrome and hemimyelomeningocele von Al Kaissi, Ali, Stuecker, Ralf, Ganger, Rudolf, Klaushofer, Klaus, Grill, Franz

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Meticulous and Early Understanding of Congenital Cranial Defects Can Save Lives von Al Kaissi, Ali, Ryabykh, Sergey, Chehida, Farid Ben, Al Kaissi, Hamza, Kircher, Susanne Gerit, Grill, Franz, Guben, Alexander

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Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia von Al Kaissi, Ali, Kenis, Vladimir, Jemaa, Lamia Ben, Sassi, Hela, Shboul, Mohammad, Grill, Franz, Ganger, Rudolf, Kircher, Susanne Gerit

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Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome von Al Kaissi, Ali, Misof, Barbara M., Laccone, Franco, Blouin, Stéphane, Roschger, Paul, Kircher, Susanne G., Shboul, Mohammad, Mindler, Gabriel T., Girsch, Werner, Ganger, Rudolf

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CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays von Windpassinger, Christian, Piard, Juliette, Bonnard, Carine, Alfadhel, Majid, Lim, Shuhui, Bisteau, Xavier, Blouin, Stéphane, Ali, Nur’Ain B., Ng, Alvin Yu Jin, Lu, Hao, Tohari, Sumanty, Talib, S. Zakiah A., van Hul, Noémi, Caldez, Matias J., Van Maldergem, Lionel, Yigit, Gökhan, Kayserili, Hülya, Youssef, Sameh A., Coppola, Vincenzo, de Bruin, Alain, Tessarollo, Lino, Choi, Hyungwon, Rupp, Verena, Roetzer, Katharina, Roschger, Paul, Klaushofer, Klaus, Altmüller, Janine, Roy, Sudipto, Venkatesh, Byrappa, Ganger, Rudolf, Grill, Franz, Ben Chehida, Farid, Wollnik, Bernd, Altunoglu, Umut, Al Kaissi, Ali, Reversade, Bruno, Kaldis, Philipp

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The constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses: Case report von Kaissi, Ali Al, Hofstaetter, Jochen, Weigel, Gerlinde, Grill, Franz, Ganger, Rudolf, Kircher, Susanne Gerit

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