Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency von Jamsheer, Aleksander, Olech, Ewelina M, Kozłowski, Kazimierz, Niedziela, Marek, Sowińska-Seidler, Anna, Obara-Moszyńska, Monika, Latos-Bieleńska, Anna, Karczewski, Marek, Zemojtel, Tomasz

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Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutation... von Jamsheer, Aleksander, Sowińska-Seidler, Anna, Olech, Ewelina M, Socha, Magdalena, Kozłowski, Kazimierz, Pyrkosz, Antoni, Trzeciak, Tomasz, Materna-Kiryluk, Anna, Latos-Bieleńska, Anna

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A 23‐year follow‐up of a male with Hajdu‐Cheney syndrome due to NOTCH2 mutation von Midro, Alina T., Stasiewicz‐Jarocka, Beata, Borys, Jan, Kozłowski, Kazimierz, Skotnicka, Bożena, Tarasów, Eugeniusz, Hubert, Ewa, Konstantynowicz, Jerzy, Panasiuk, Barbara, Rydzanicz, Małgorzata, Pollak, Agnieszka, Stawiński, Piotr, Skowroński, Rafał, Płoski, Rafał

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Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia von Kim, Su Jin, Bieganski, Tadeusz, Sohn, Young Bae, Kozlowski, Kazimierz, Semënov, Mikhail, Okamoto, Nobuhiko, Kim, Chi Hwa, Ko, Ah-Ra, Ahn, Geung Hwan, Choi, Yoon-La, Park, Sung Won, Ki, Chang-Seok, Kim, Ok-Hwa, Nishimura, Gen, Unger, Sheila, Superti-Furga, Andrea, Jin, Dong-Kyu

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Isomerization of hop extract α-acids von Kostrzewa, Dorota, Dobrzyńska-Inger, Agnieszka, Rój, Edward, Grzęda, Karolina, Kozłowski, Kazimierz

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Novel mutation in the BMPR1B gene (R486L) in a polish family and further delineation of the phenotypic features of BMPR1B-Related brachydactyly von Badura-Stronka, Magdalena, Mróz, Dariusz, Beighton, Peter, Łukawiecki, Sebastian, Wicher, Katarzyna, Latos-Bieleńska, Anna, Kozłowski, Kazimierz

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A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity von Czarny-Ratajczak, Malwina, Lohiniva, Jaana, Rogala, Piotr, Kozlowski, Kazimierz, Perälä, Merja, Carter, Liisa, Spector, Tim D., Kolodziej, Lukasz, Seppänen, Ulpu, Glazar, Renata, Królewski, Jan, Latos-Bielenska, Anna, Ala-Kokko, Leena

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The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings von Sowińska-Seidler, Anna, Sztromwasser, Paweł, Zawadzka, Katarzyna, Sielski, Dawid, Bukowska-Olech, Ewelina, Zawadzki, Paweł, Kozłowski, Kazimierz, Jamsheer, Aleksander

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Severe neonatal spondylometaphyseal dysplasia in two siblings von Czarny-Ratajczak, Malwina, Chrzanowska, Krystyna, Bieganski, Tadeusz, Sulko, Jerzy, Baranska, Dobromila, Kocyla-Karczmarewicz, Beata, Kuszel, Lukasz, Jakubowski, Lucjusz, Niedzielski, Kryspin, Kozlowski, Kazimierz

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Osteogenesis imperfecta type V, spot diagnosis von Kozlowski, Kazimierz

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SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae von Bieganski, Tadeusz, Beighton, Peter, Lukaszewski, Maciej, Bik, Krzysztof, Kuszel, Lukasz, Wasilewska, Ewa, Kozlowski, Kazimierz, Czarny-Ratajczak, Malwina

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Three new patients with FATCO: Fibular agenesis with ectrodactyly von Bieganski, Tadeusz, Jamsheer, Aleksander, Sowinska, Anna, Baranska, Dobromila, Niedzielski, Kryspin, Kozlowski, Kazimierz, Czarny-Ratajczak, Malwina

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Osteoglophonic dysplasia : appearance and progression of multiple nonossifying fibromata von AZOUZ, E. M, KOZLOWSKI, K

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Tributes von Sellars, Sean L, Hamersma, Herman, Kozlowski, Kazimierz, Winship, Ingrid, Medefindt, Claudette, Zieff, Sol, Bonafede, Peter, Gericke, George, Viljoen, Denis L

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New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene von Czarny-Ratajczak, Malwina, Bieganski, Tadeusz, Rogala, Piotr, Glowacki, Maciej, Trzeciak, Tomasz, Kozlowski, Kazimierz

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Expansion of Carraro syndrome or a new disorder? von Sulko, Jerzy, Miklaszewski, Krzysztof, Podosek, Adam, Kozlowski, Kazimierz

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Ultrasound diagnosis of severe mesomelic dysplasia in two fetuses, associated with increased neck translucency and tetralogy of Fallot in one and cystic hygroma in the other von Vseticka, Jan, Gattnarova, Zuzana, Marik, Ivo, Kozlowski, Kazimierz

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Czech dysplasia metatarsal type: another type II collagen disorder von Hoornaert, Kristien P, Marik, Ivo, Kozlowski, Kazimierz, Cole, Trevor, Le Merrer, Martine, Leroy, Jules G, Coucke, Paul J, Sillence, David, Mortier, Geert R

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A variant or a “new” postaxial acrofacial dysostosis syndrome von Sułko, Jerzy, Kotulski, Dariusz, Kozlowski, Kazimierz

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A new form or a variant of SMD type A4 von Marik, Ivo, Hudakova, Olga, Petrasova, Sarka, Kuszel, Lukasz, Czarny-Ratajczak, Malwina, Kozlowski, Kazimierz

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