Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease von Walczak-Sztulpa, Joanna, Posmyk, Renata, Bukowska-Olech, Ewelina M, Wawrocka, Anna, Jamsheer, Aleksander, Oud, Machteld M, Schmidts, Miriam, Arts, Heleen H, Latos-Bielenska, Anna, Wasilewska, Anna

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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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Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach von Olech, E M, Zemojtel, T, Sowińska-Seidler, A, Mundlos, S, Robinson, P N, Karczewski, M, Jamsheer, A

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Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia von Hordyjewska‐Kowalczyk, Ewa, Sowińska‐Seidler, Anna, Olech, Ewelina M., Socha, Magdalena, Glazar, Renata, Kruczek, Anna, Latos‐Bieleńska, Anna, Tylzanowski, Przemko, Jamsheer, Aleksander

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Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation von Sowińska-Seidler, Anna, Olech, Ewelina M., Socha, Magdalena, Larysz, Dawid, Jamsheer, Aleksander

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Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation von Sowińska-Seidler, Anna, Olech, Ewelina M., Socha, Magdalena, Larysz, Dawid, Jamsheer, Aleksander

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Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia von Hordyjewska-Kowalczyk, Ewa, Sowinska-Seidler, Anna, Olech, Ewelina M, Socha, Magdalena, Glazar, Renata, Kruczek, Anna, Latos-Bielenska, Anna, Tylzanowski, Przemko, Jamsheer, Aleksander

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Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35 von Walczak‐Sztulpa, Joanna, Wawrocka, Anna, Stańczyk, Małgorzata, Pesz, Karolina, Dudarewicz, Lech, Chrul, Sławomir, Bukowska‐Olech, Ewelina, Wieczorek‐Cichecka, Nina, Arts, Heleen H., Oud, Machteld M., Śmigiel, Robert, Grenda, Ryszard, Obersztyn, Ewa, Chrzanowska, Krystyna H., Latos‐Bieleńska, Anna

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Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis von Walczak-Sztulpa, Joanna, Wawrocka, Anna, Doornbos, Cenna, van Beek, Ronald, Sowińska-Seidler, Anna, Jamsheer, Aleksander, Bukowska-Olech, Ewelina, Latos-Bieleńska, Anna, Grenda, Ryszard, Bongers, Ernie M. H. F., Schmidts, Miriam, Obersztyn, Ewa, Krawczyński, Maciej R., Oud, Machteld M.

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Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35 von Walczak-Sztulpa, Joanna, Wawrocka, Anna, Stańczyk, Małgorzata, Pesz, Karolina, Dudarewicz, Lech, Chrul, Sławomir, Bukowska-Olech, Ewelina, Wieczorek-Cichecka, Nina, Arts, Heleen H, Oud, Machteld M, Śmigiel, Robert, Grenda, Ryszard, Obersztyn, Ewa, Chrzanowska, Krystyna H, Latos-Bieleńska, Anna

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