Результати пошуку - Anderlid, Britt Marie
- Показ 1 - 20 результатів із 35
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Minor physical anomalies in neurodevelopmental disorders: a twin study за авторством Myers, Lynnea, Anderlid, Britt-Marie, Nordgren, Ann, Willfors, Charlotte, Kuja-Halkola, Ralf, Tammimies, Kristiina, Bölte, Sven
Опубліковано 2017Текст -
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Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study за авторством Stödberg, Tommy, Tomson, Torbjörn, Barbaro, Michela, Stranneheim, Henrik, Anderlid, Britt‐Marie, Carlsson, Sofia, Åmark, Per, Wedell, Anna
Опубліковано 2020Текст -
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Erratum за авторством Wincent, Josephine, Luthman, Aron, van Belzen, Martine, van der Lans, Christian, Albert, Johanna, Nordgren, Ann, Anderlid, Britt‐Marie
Опубліковано 2016Текст -
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Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia за авторством Dahl, Sara, Pettersson, Maria, Eisfeldt, Jesper, Schröder, Anna Katharina, Wickström, Ronny, Teär Fahnehjelm, Kristina, Anderlid, Britt-Marie, Lindstrand, Anna
Опубліковано 2020Текст -
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X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4 за авторством Smeds, Henrik, Wales, Jeremy, Karltorp, Eva, Anderlid, Britt-Marie, Henricson, Cecilia, Asp, Filip, Anmyr, Lena, Lagerstedt-Robinson, Kristina, Löfkvist, Ulrika
Опубліковано 2021Текст -
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Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA за авторством Barbaro, Michela, Balsamo, Antonio, Anderlid, Britt Marie, Myhre, Anne Grethe, Gennari, Monia, Nicoletti, Annalisa, Pittalis, Maria Carla, Oscarson, Mikael, Wedell, Anna
Опубліковано 2009Текст -
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions за авторством Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn
Опубліковано 2011Текст -
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Nasal speech in patients with 12q15 microdeletions за авторством Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn
Опубліковано 2012Текст -
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NRXN1 Deletion and Exposure to Methylmercury Increase Astrocyte Differentiation by Different Notch-Dependent Transcriptional Mechanisms за авторством Raciti, Marilena, Salma, Jahan, Spulber, Stefan, Gaudenzi, Giulia, Khalajzeyqami, Zahra, Conti, Mirko, Anderlid, Britt-Marie, Falk, Anna, Hermanson, Ola, Ceccatelli, Sandra
Опубліковано 2019Текст -
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Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications за авторством Myers, Lynnea, Blyth, Moira, Moradkhani, Kamran, Hranilović, Dubravka, Polesie, Sam, Isaksson, Johan, Nordgren, Ann, Bucan, Maja, Vincent, Marie, Bölte, Sven, Anderlid, Britt‐Marie, Tammimies, Kristiina
Опубліковано 2019Текст -
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Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene за авторством van der Schoot, Vyne, de Munnik, Sonja, Venselaar, Hanka, Elting, Mariet, Mancini, Grazia M. S., Ravenswaaij‐Arts, Conny M. A., Anderlid, Britt‐Marie, Brunner, Han G., Stevens, Servi J. C.
Опубліковано 2018Текст -
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Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate за авторством Breckpot, Jeroen, Anderlid, Britt-Marie, Alanay, Yasemin, Blyth, Moira, Brahimi, Afane, Duban-Bedu, Bénédicte, Gozé, Odile, Firth, Helen, Yakicier, Mustafa Cengiz, Hens, Greet, Rayyan, Maissa, Legius, Eric, Vermeesch, Joris Robert, Devriendt, Koen
Опубліковано 2016Текст -
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Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay за авторством Weiss, Karin, Wigby, Kristen, Fannemel, Madeleine, Henderson, Lindsay B, Beck, Natalie, Ghali, Neeti, Study, D D D, Anderlid, Britt-Marie, Lundin, Johanna, Hamosh, Ada, Jones, Marilyn C, Ghedia, Sondhya, Muenke, Maximilian, Kruszka, Paul
Опубліковано 2017Текст -
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Molecular and clinical delineation of the 17q22 microdeletion phenotype за авторством Laurell, Tobias, Lundin, Johanna, Anderlid, Britt-Marie, Gorski, Jerome L, Grigelioniene, Giedre, Knight, Samantha J L, Krepischi, Ana C V, Nordenskjöld, Agneta, Price, Susan M, Rosenberg, Carla, Turnpenny, Peter D, Vianna-Morgante, Angela M, Nordgren, Ann
Опубліковано 2013Текст -
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Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36 за авторством Zaveri, Hitisha P., Beck, Tyler F., Hernández-García, Andrés, Shelly, Katharine E., Montgomery, Tara, van Haeringen, Arie, Anderlid, Britt-Marie, Patel, Chirag, Goel, Himanshu, Houge, Gunnar, Morrow, Bernice E., Cheung, Sau Wai, Lalani, Seema R., Scott, Daryl A.
Опубліковано 2014Текст -
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Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186 за авторством Kvarnung, Malin, Shahsavani, Mansoureh, Taylan, Fulya, Moslem, Mohsen, Breeuwsma, Nicole, Laan, Loora, Schuster, Jens, Jin, Zhe, Nilsson, Daniel, Lieden, Agne, Anderlid, Britt-Marie, Nordenskjöld, Magnus, Syk Lundberg, Elisabeth, Birnir, Bryndis, Dahl, Niklas, Nordgren, Ann, Lindstrand, Anna, Falk, Anna
Опубліковано 2019Текст -
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Whole genome sequencing of cytogenetically balanced chromosome translocations identifies potentially pathological gene disruptions and highlights the importance of microhomology in... за авторством Nilsson, Daniel, Pettersson, Maria, Gustavsson, Peter, Förster, Alisa, Hofmeister, Wolfgang, Wincent, Josephine, Zachariadis, Vasilios, Anderlid, Britt-Marie, Nordgren, Ann, Mäkitie, Outi, Wirta, Valtteri, Käller, Max, Vezzi, Francesco, Lupski, James R, Nordenskjöld, Magnus, Lundberg, Elisabeth Syk, Carvalho, Claudia M. B., Lindstrand, Anna
Опубліковано 2016Текст -
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Presynaptic dysfunction in CASK-related neurodevelopmental disorders за авторством Becker, Martin, Mastropasqua, Francesca, Reising, Jan Philipp, Maier, Simon, Ho, Mai-Lan, Rabkina, Ielyzaveta, Li, Danyang, Neufeld, Janina, Ballenberger, Lea, Myers, Lynnea, Moritz, Viveka, Kele, Malin, Wincent, Josephine, Willfors, Charlotte, Sitnikov, Rouslan, Herlenius, Eric, Anderlid, Britt-Marie, Falk, Anna, Bölte, Sven, Tammimies, Kristiina
Опубліковано 2020Текст -
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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell... за авторством Lindstrand, Anna, Eisfeldt, Jesper, Pettersson, Maria, Carvalho, Claudia M. B., Kvarnung, Malin, Grigelioniene, Giedre, Anderlid, Britt-Marie, Bjerin, Olof, Gustavsson, Peter, Hammarsjö, Anna, Georgii-Hemming, Patrik, Iwarsson, Erik, Johansson-Soller, Maria, Lagerstedt-Robinson, Kristina, Lieden, Agne, Magnusson, Måns, Martin, Marcel, Malmgren, Helena, Nordenskjöld, Magnus, Norling, Ameli, Sahlin, Ellika, Stranneheim, Henrik, Tham, Emma, Wincent, Josephine, Ygberg, Sofia, Wedell, Anna, Wirta, Valtteri, Nordgren, Ann, Lundin, Johanna, Nilsson, Daniel
Опубліковано 2019Текст