检索结果 - Tommerup, Niels 

Genome-wide detection of chromosomal rearrangements, indels, and mutations in circular chromosomes by short read sequencing 由 Skovgaard, Ole, Bak, Mads, Løbner-Olesen, Anders, Tommerup, Niels

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A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family 由 Anjum, Iram, Eiberg, Hans, Baig, Shahid Mahmood, Tommerup, Niels, Hansen, Lars

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Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy 由 Klitten, Laura L, Møller, Rikke S, Ravn, Kirstine, Hjalgrim, Helle, Tommerup, Niels

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Metaphase FISH on a Chip: Miniaturized Microfluidic Device for Fluorescence in situ Hybridization 由 Vedarethinam, Indumathi, Shah, Pranjul, Dimaki, Maria, Tumer, Zeynep, Tommerup, Niels, Svendsen, Winnie E.

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Chromothripsis and DNA Repair Disorders 由 Nazaryan-Petersen, Lusine, Bjerregaard, Victoria Alexandra, Nielsen, Finn Cilius, Tommerup, Niels, Tümer, Zeynep

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Dysregulation of FOXG1 by ring chromosome 14 由 Alosi, Daniela, Klitten, Laura Line, Bak, Mads, Hjalgrim, Helle, Møller, Rikke Steensbjerre, Tommerup, Niels

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The small RNA content of human sperm reveals pseudogene-derived piRNAs complementary to protein-coding genes 由 Pantano, Lorena, Jodar, Meritxell, Bak, Mads, Ballescà, Josep Lluís, Tommerup, Niels, Oliva, Rafael, Vavouri, Tanya

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Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement 由 Aristidou, Constantia, Theodosiou, Athina, Ketoni, Andria, Bak, Mads, Mehrjouy, Mana M., Tommerup, Niels, Sismani, Carolina

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Single-molecule denaturation mapping of DNA in nanofluidic channels 由 Reisner, Walter, Larsen, Niels B., Silahtaroglu, Asli, Kristensen, Anders, Tommerup, Niels, Tegenfeldt, Jonas O., Flyvbjerg, Henrik

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MicroRNA expression in the adult mouse central nervous system 由 Bak, Mads, Silahtaroglu, Asli, Møller, Morten, Christensen, Mette, Rath, Martin F., Skryabin, Boris, Tommerup, Niels, Kauppinen, Sakari

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Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity 由 Halgren, Christina, Bache, Iben, Bak, Mads, Myatt, Mikkel Wanting, Anderson, Claire Marie, Brøndum-Nielsen, Karen, Tommerup, Niels

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Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population 由 Fatima, Ambrin, Farooq, Muhammad, Abdullah, Uzma, Tariq, Muhammad, Mustafa, Tanveer, Iqbal, Muhammad, Tommerup, Niels, Mahmood Baig, Shahid

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No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome 由 Boonen, Susanne E, Hahnemann, Johanne M D, Mackay, Deborah, Tommerup, Niels, Brøndum-Nielsen, Karen, Tümer, Zeynep, Grønskov, Karen

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Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS) 由 Silahtaroglu, Asli N, Brondum-Nielsen, Karen, Gredal, Ole, Werdelin, Lene, Panas, Marios, Petersen, Michael B, Tommerup, Niels, Tümer, Zeynep

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REST–Mediated Recruitment of Polycomb Repressor Complexes in Mammalian Cells 由 Dietrich, Nikolaj, Lerdrup, Mads, Landt, Eskild, Agrawal-Singh, Shuchi, Bak, Mads, Tommerup, Niels, Rappsilber, Juri, Södersten, Erik, Hansen, Klaus

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Profiling microRNAs in lung tissue from pigs infected with Actinobacillus pleuropneumoniae 由 Podolska, Agnieszka, Anthon, Christian, Bak, Mads, Tommerup, Niels, Skovgaard, Kerstin, Heegaard, Peter MH, Gorodkin, Jan, Cirera, Susanna, Fredholm, Merete

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Monozygotic twins discordant for narcolepsy type 1 and multiple sclerosis 由 Jennum, Poul J., Kornum, Birgitte R., Issa, Nadia M., Gammeltoft, Steen, Tommerup, Niels, Morling, Niels, Tümer, Zeynep, Knudsen, Stine

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Loss of the retinoblastoma protein-related p130 protein in small cell lung carcinoma 由 Helin, Kristian, Holm, Karin, Niebuhr, Anita, Eiberg, Hans, Tommerup, Niels, Hougaard, Susanne, Poulsen, Hans Skovgaard, Spang-Thomsen, Mogens, Nørgaard, Peter

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Jarid1b targets genes regulating development and is involved in neural differentiation 由 Schmitz, Sandra U, Albert, Mareike, Malatesta, Martina, Morey, Lluis, Johansen, Jens V, Bak, Mads, Tommerup, Niels, Abarrategui, Iratxe, Helin, Kristian

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Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families 由 Fatima, Ambrin, Abdullah, Uzma, Farooq, Muhammad, Mang, Yuan, Mehrjouy, Mana M., Asif, Maria, Ali, Zafar, Tommerup, Niels, Baig, Shahid M.

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