Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up by Hillevi Lindelöf, Hillevi Lindelöf, Eva Horemuzova, Ulrika Voss, Ann Nordgren, Ann Nordgren, Giedre Grigelioniene, Giedre Grigelioniene, Anna Hammarsjö, Anna Hammarsjö

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Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome by Heidi Elisabeth Nag, Ann Nordgren, Britt-Marie Anderlid, Terje Nærland

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Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta by Kristofer Andersson, Barbro Malmgren, Eva Åström, Ann Nordgren, Fulya Taylan, Göran Dahllöf

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Minor physical anomalies in neurodevelopmental disorders: a twin study by Lynnea Myers, Britt-Marie Anderlid, Ann Nordgren, Charlotte Willfors, Ralf Kuja-Halkola, Kristiina Tammimies, Sven Bölte

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Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation by Carolina Maya-González, Sandra Wessman, Sandra Wessman, Kristina Lagerstedt-Robinson, Kristina Lagerstedt-Robinson, Fulya Taylan, Fulya Taylan, Bianca Tesi, Bianca Tesi, Bianca Tesi, Ekaterina Kuchinskaya, Ekaterina Kuchinskaya, W. Glenn McCluggage, Anna Poluha, Anna Poluha, Stefan Holm, Ricard Nergårdh, Teresita Díaz De Ståhl, Teresita Díaz De Ståhl, Charlotte Höybye, Charlotte Höybye, Giorgio Tettamanti, Giorgio Tettamanti, Angelica Maria Delgado-Vega, Angelica Maria Delgado-Vega, Anna Skarin Nordenvall, Anna Skarin Nordenvall, Ann Nordgren, Ann Nordgren, Ann Nordgren, Ann Nordgren

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Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant by Jens Schuster, Maria Sobol, Ambrin Fatima, Ayda Khalfallah, Loora Laan, Britt-Marie Anderlid, Ann Nordgren, Niklas Dahl

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ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function by Jens Schuster, Joakim Klar, Ayda Khalfallah, Loora Laan, Jan Hoeber, Ambrin Fatima, Velin Marita Sequeira, Zhe Jin, Sergiy V. Korol, Mikael Huss, Ann Nordgren, Ann Nordgren, Britt Marie Anderlid, Britt Marie Anderlid, Caroline Gallant, Bryndis Birnir, Niklas Dahl

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International Undiagnosed Diseases Programs (UDPs): components and outcomes by Ela Curic, Lisa Ewans, Ryan Pysar, Fulya Taylan, Lorenzo D. Botto, Ann Nordgren, William Gahl, Elizabeth Emma Palmer

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Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations by Johanna Winberg, Peter Gustavsson, Ellika Sahlin, Magnus Larsson, Henrik Ehrén, Magdalena Fossum, Tomas Wester, Ann Nordgren, Agneta Nordenskjöld

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The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders by Hannes Runheim, Maria Pettersson, Anna Hammarsjö, Ann Nordgren, Martin Henriksson, Anna Lindstrand, Lars-Åke Levin, Maria Johansson Soller

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Social feedback enhances learning in Williams syndrome by Johan Lundin Kleberg, Charlotte Willfors, Hanna Björlin Avdic, Deborah Riby, Martyna A. Galazka, Mona Guath, Ann Nordgren, Claes Strannegård

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Williams syndrome: on the role of intellectual abilities in anxiety by Charlotte Willfors, Deborah M. Riby, Marcus van der Poll, Katja Ekholm, Hanna Avdic Björlin, Johan Lundin Kleberg, Ann Nordgren

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No transfer of arousal from other’s eyes in Williams syndrome by Johan Lundin Kleberg, Astrid E. Z. Hallman, Martyna A. Galazka, Deborah M. Riby, Sven Bölte, Charlotte Willfors, Christine Fawcett, Ann Nordgren

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Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants by Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell, Anna Lindstrand, Nina Jäntti, Helena Malmgren, Kristina Lagerstedt‐Robinson, Bianca Tesi, Fulya Taylan, Ann Nordgren

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Reduced effects of social feedback on learning in Turner syndrome by Hanna Björlin Avdic, Claes Strannegård, Hedvig Engberg, Charlotte Willfors, Ida Nordgren, Louise Frisén, Angelica Lindén Hirschberg, Mona Guath, Ann Nordgren, Johan Lundin Kleberg

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Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association. by Johanna Winberg, Peter Gustavsson, Nikos Papadogiannakis, Ellika Sahlin, Frideborg Bradley, Edvard Nordenskjöld, Pär-Johan Svensson, Göran Annerén, Erik Iwarsson, Ann Nordgren, Agneta Nordenskjöld

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High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing. by Anh Nhi Tran, Fulya Taylan, Vasilios Zachariadis, Ingegerd Ivanov Öfverholm, Anna Lindstrand, Francesco Vezzi, Britta Lötstedt, Magnus Nordenskjöld, Ann Nordgren, Daniel Nilsson, Gisela Barbany

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Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications by Lynnea Myers, Moira Blyth, Kamran Moradkhani, Dubravka Hranilović, Sam Polesie, Johan Isaksson, Ann Nordgren, Maja Bucan, Marie Vincent, Sven Bölte, Britt‐Marie Anderlid, Kristiina Tammimies

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Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186 by Malin Kvarnung, Malin Kvarnung, Mansoureh Shahsavani, Mansoureh Shahsavani, Fulya Taylan, Mohsen Moslem, Nicole Breeuwsma, Loora Laan, Jens Schuster, Zhe Jin, Daniel Nilsson, Daniel Nilsson, Agne Lieden, Agne Lieden, Britt-Marie Anderlid, Britt-Marie Anderlid, Magnus Nordenskjöld, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Elisabeth Syk Lundberg, Bryndis Birnir, Niklas Dahl, Ann Nordgren, Ann Nordgren, Anna Lindstrand, Anna Lindstrand, Anna Falk

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Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13 by Prince Jacob, Hillevi Lindelöf, Cecilie F. Rustad, Vernon Reid Sutton, Shahida Moosa, Prajna Udupa, Anna Hammarsjö, Gandham SriLakshmi Bhavani, Dominyka Batkovskyte, Kristian Tveten, Ashwin Dalal, Eva Horemuzova, Ann Nordgren, Emma Tham, Hitesh Shah, Else Merckoll, Laura Orellana, Gen Nishimura, Katta M. Girisha, Giedre Grigelioniene

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