المؤلفون: Kristensen, Steffen Ernesto, Ekelund, Charlotte Kvist, Sandager, Puk, Jørgensen, Finn Stener, Hoseth, Eva, Sperling, Lene, Zingenberg, Helle Jeanette, Hjortshøj, Tina Duelund, Gadsbøll, Kasper, Wright, Alan, Wright, David, Mclennan, Andrew, Sundberg, Karin, Petersen, Olav Bjørn

المصدر: Kristensen , S E , Ekelund , C K , Sandager , P , Jørgensen , F S , Hoseth , E , Sperling , L , Zingenberg , H J , Hjortshøj , T D , Gadsbøll , K , Wright , A , Wright , D , Mclennan , A , Sundberg , K & Petersen , O B 2023 , ' Triple trouble : Uncovering the risks and benefits of early fetal reduction in trichorionic triplets in a large national Danish cohort study ' , American Journal of Obstetrics and Gynecology , vol. 229 , no. ....

مصطلحات موضوعية: Danish national cohort, adverse pregnancy outcome, chance of live born, embryo reduction, multifetal pregnancy, multifetal pregnancy reduction, multiples, pregnancy complications, preterm birth, preterm delivery, reproductive autonomy, selective termination, Humans, Triplets, Pregnancy Reduction, Multifetal/adverse effects, Female, Stillbirth/epidemiology, Retrospective Studies, Abortion, Spontaneous/epidemiology, Infant, Newborn, Risk Assessment, Gestational Age, Pregnancy, Twin, Birth Weight, Denmark/epidemiology, Pregnancy Outcome

العلاقة: https://pure.au.dk/portal/en/publications/d1033b1f-e312-4cf3-b7fb-85cf3ee7707eTest

الإتاحة: https://doi.org/10.1016/j.ajog.2023.05.029Test
https://pure.au.dk/portal/en/publications/d1033b1f-e312-4cf3-b7fb-85cf3ee7707eTest

المؤلفون: Kristensen, Steffen Ernesto, Ekelund, Charlotte Kvist, Sandager, Puk, Jørgensen, Finn Stener, Hoseth, Eva, Sperling, Lene, Balaganeshan, Sedrah Butt, Hjortshøj, Tina Duelund, Gadsbøll, Kasper, Wright, Alan, Wright, David, McLennan, Andrew, Sundberg, Karin, Petersen, Olav Bjørn

المصدر: Kristensen , S E , Ekelund , C K , Sandager , P , Jørgensen , F S , Hoseth , E , Sperling , L , Balaganeshan , S B , Hjortshøj , T D , Gadsbøll , K , Wright , A , Wright , D , McLennan , A , Sundberg , K & Petersen , O B 2023 , ' Risks and pregnancy outcome after fetal reduction in dichorionic twin pregnancies : a Danish national retrospective cohort study ' , American Journal of Obstetrics and Gynecology , vol. 228 , no. 5 , pp. 590.e1-590.e12 ....

مصطلحات موضوعية: adverse pregnancy outcome, chance of liveborn, co-twin, Danish national cohort, embryo reduction, multifetal pregnancies, multifetal pregnancy, multifetal pregnancy reduction, multiples, pregnancy complications, reproductive autonomy, selective feticide, selective fetocide, selective termination, Humans, Twins, Dizygotic, Pregnancy Outcome/epidemiology, Pregnancy Reduction, Multifetal/adverse effects, Pregnancy Complications/epidemiology, Female, Stillbirth/epidemiology, Retrospective Studies, Fetal Death/etiology, Abortion, Spontaneous/epidemiology, Infant, Newborn, Gestational Age

الإتاحة: https://doi.org/10.1016/j.ajog.2022.10.028Test
https://pure.au.dk/portal/da/publications/risks-and-pregnancy-outcome-after-fetal-reduction-in-dichorionic-twin-pregnanciesTest(e5a35761-bbe5-4143-969f-61ac301defaa).html
http://www.scopus.com/inward/record.url?scp=85142495597&partnerID=8YFLogxKTest

المؤلفون: Hildonen, Mathis, Ferilli, Marco, Hjortshøj, Tina Duelund, Dunø, Morten, Risom, Lotte, Bak, Mads, Ek, Jakob, Møller, Rikke S., Ciolfi, Andrea, Tartaglia, Marco, Tümer, Zeynep

المصدر: Hildonen , M , Ferilli , M , Hjortshøj , T D , Dunø , M , Risom , L , Bak , M , Ek , J , Møller , R S , Ciolfi , A , Tartaglia , M & Tümer , Z 2023 , ' DNA methylation signature classification of rare disorders using publicly available methylation data ' , Clinical Genetics , vol. 103 , no. 6 , pp. 688-692 . https://doi.org/10.1111/cge.14304Test

مصطلحات موضوعية: KMT2D, Kabuki syndrome, Mendelian disorders, VUS classification, epigenetics, episignature, rare disorders, Abnormalities, Multiple/genetics, DNA Methylation, Humans, Vestibular Diseases/genetics, Hematologic Diseases/genetics

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/6ef2c65d-44e3-4bcf-b55a-444161ce9cddTest

الإتاحة: https://doi.org/10.1111/cge.14304Test
https://portal.findresearcher.sdu.dk/da/publications/6ef2c65d-44e3-4bcf-b55a-444161ce9cddTest
https://findresearcher.sdu.dk/ws/files/220564653/Clinical_Genetics_2023_Hildonen_DNA_methylation_signature_classification_of_rare_disorders_using_publicly_available.pdfTest

المؤلفون: Jeppesen, Line Dahl, Hjortshøj, Tina Duelund, Hindkjær, Johnny, Hatt, Lotte, Petersen, Olav Bjørn, Singh, Ripudaman, Schelde, Palle, Andreasen, Lotte, Christensen, Rikke, Lildballe, Dorte L., Vogel, Ida

المصدر: Jeppesen , L D , Hjortshøj , T D , Hindkjær , J , Hatt , L , Petersen , O B , Singh , R , Schelde , P , Andreasen , L , Christensen , R , Lildballe , D L & Vogel , I 2022 , ' Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy ' , Frontiers in Genetics , vol. 13 , 842092 . https://doi.org/10.3389/fgene.2022.842092Test

مصطلحات موضوعية: cell-based NIPT, cell-free NIPT, circulating fetal cells, extravillous trophoblasts, klinefelter syndrome, sex chromosome anomaly, twin pregnancy

العلاقة: https://pure.au.dk/portal/en/publications/089ae02e-4d94-4197-aa0e-3d1bbaa6a5f6Test

الإتاحة: https://doi.org/10.3389/fgene.2022.842092Test
https://pure.au.dk/portal/en/publications/089ae02e-4d94-4197-aa0e-3d1bbaa6a5f6Test
http://www.scopus.com/inward/record.url?scp=85127681996&partnerID=8YFLogxKTest

المؤلفون: Bayat, Allan, Bayat, Michael, Broers, Chantal, Polstra, Abeltje M., Zwijnenburg, Petra J.G., Hjortshøj, Tina Duelund

المصدر: Bayat , A , Bayat , M , Broers , C , Polstra , A M , Zwijnenburg , P J G & Hjortshøj , T D 2021 , ' 5q11.2 deletion syndrome revisited : Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome ' , American Journal of Medical Genetics Part A , vol. 185 , no. 12 , pp. 3844-3850 . https://doi.org/10.1002/ajmg.a.62428Test

مصطلحات موضوعية: 5q11.2 microdeletion syndrome, developmental delay, DHX29, immunodeficiency, shortest region of overlap

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/9a237bd7-a310-48d8-82ff-c531b22c7d14Test

الإتاحة: https://doi.org/10.1002/ajmg.a.62428Test
https://portal.findresearcher.sdu.dk/da/publications/9a237bd7-a310-48d8-82ff-c531b22c7d14Test
https://findresearcher.sdu.dk/ws/files/189848866/ajmg.a.62428.pdfTest

المؤلفون: Hey, Caroline Amalie Brunbjerg, Larsen, Lasse Jonsgaard, Grønskov, Zeynep Tümer Karen, Hjortshøj, Tina Duelund, Møller, Lisbeth Birk, Brøndum-Nielsen, Karen

المصدر: Hey , C A B , Larsen , L J , Grønskov , Z T K , Hjortshøj , T D , Møller , L B & Brøndum-Nielsen , K 2021 , ' BBS proteins affect ciliogenesis and are essential for hedgehog signaling, but not for formation of IPSC-derived RPE-65 expressing rpe-like cells ' , International Journal of Molecular Sciences , vol. 22 , no. 3 , 1345 , pp. 1-18 . https://doi.org/10.3390/ijms22031345Test

مصطلحات موضوعية: BBS, Ciliogenesis, Hedgehog-signaling, Induced pluripotent stem cell, RPE, RPE65, SMO, WNT

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.3390/ijms22031345Test
https://curis.ku.dk/portal/da/publications/bbs-proteins-affect-ciliogenesis-and-are-essential-for-hedgehog-signaling-but-not-for-formation-of-ipscderived-rpe65-expressing-rpelike-cellsTest(4e5827f1-0b92-49ca-acd5-4cc9eb8fb78a).html
https://curis.ku.dk/ws/files/282532298/ijms_22_01345_v2.pdfTest
http://www.scopus.com/inward/record.url?scp=85100031931&partnerID=8YFLogxKTest

المؤلفون: Manole, Andreea, Efthymiou, Stephanie, O'Connor, Emer, Mendes, Marisa I., Jennings, Matthew, Maroofian, Reza, Davagnanam, Indran, Mankad, Kshitij, Lopez, Maria Rodriguez, Salpietro, Vincenzo, Harripaul, Ricardo, Badalato, Lauren, Walia, Jagdeep, Francklyn, Christopher S., Athanasiou-Fragkouli, Alkyoni, Sullivan, Roisin, Desai, Sonal, Baranano, Kristin, Zafar, Faisal, Rana, Nuzhat, Ilyas, Muhammed, Horga, Alejandro, Kara, Majdi, Mattioli, Francesca, Goldenberg, Alice, Griffin, Helen, Piton, Amelie, Henderson, Lindsay B., Kara, Benyekhlef, Aslanger, Ayca Dilruba, Raaphorst, Joost, Pfundt, Rolph, Portier, Ruben, Shinawi, Marwan, Kirby, Amelia, Christensen, Katherine M., Wang, Lu, Rosti, Rasim O., Paracha, Sohail A., Sarwar, Muhammad T., Jenkins, Dagan, Ahmed, Jawad, Santoni, Federico A., Ranza, Emmanuelle, Iwaszkiewicz, Justyna, Cytrynbaum, Cheryl, Weksberg, Rosanna, Wentzensen, Ingrid M., Guillen Sacoto, Maria J., Si, Yue, Telegrafi, Aida, Andrews, Marisa V., Baldridge, Dustin, Gabriel, Heinz, Mohr, Julia, Oehl-Jaschkowitz, Barbara, Debard, Sylvain, Senger, Bruno, Fischer, Frédéric, van Ravenwaaij, Conny, Fock, Annemarie J.M., Stevens, Servi J.C., Bähler, Jürg, Nasar, Amina, Mantovani, John F., Manzur, Adnan, Sarkozy, Anna, Smith, Desirée E.C., Salomons, Gajja S., Ahmed, Zubair M., Riazuddin, Shaikh, Riazuddin, Saima, Usmani, Muhammad A., Seibt, Annette, Ansar, Muhammad, Antonarakis, Stylianos E., Vincent, John B., Ayub, Muhammad, Grimmel, Mona, Jelsig, Anne Marie, Hjortshøj, Tina Duelund, Karstensen, Helena Gásdal, Hummel, Marybeth, Haack, Tobias B., Jamshidi, Yalda, Distelmaier, Felix, Horvath, Rita, Gleeson, Joseph G., Becker, Hubert, Mandel, Jean Louis, Koolen, David A., Houlden, Henry

المصدر: Manole , A , Efthymiou , S , O'Connor , E , Mendes , M I , Jennings , M , Maroofian , R , Davagnanam , I , Mankad , K , Lopez , M R , Salpietro , V , Harripaul , R , Badalato , L , Walia , J , Francklyn , C S , Athanasiou-Fragkouli , A , Sullivan , R , Desai , S , Baranano , K , Zafar , F , Rana , N , Ilyas , M , Horga , A , Kara , M , Mattioli , F , ....

العلاقة: https://research.vumc.nl/en/publications/c3a406b1-895d-4557-92a7-100a86fd9ac9Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.06.016Test
https://research.vumc.nl/en/publications/c3a406b1-895d-4557-92a7-100a86fd9ac9Test
http://www.scopus.com/inward/record.url?scp=85088934445&partnerID=8YFLogxKTest

المؤلفون: Jespersgaard, Cathrine, Hey, Amalie Brunbjerg, Ilginis, Tomas, Hjortshøj, Tina Duelund, Fang, Mingyan, Bertelsen, Mette, Bech, Niels, Jensen, Hanne, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Rosenberg, Thomas, Brøndum-Nielsen, Karen, Møller, Lisbeth Birk, Grønskov, Karen

المصدر: Jespersgaard , C , Hey , A B , Ilginis , T , Hjortshøj , T D , Fang , M , Bertelsen , M , Bech , N , Jensen , H , Larsen , L J , Tümer , Z , Rosenberg , T , Brøndum-Nielsen , K , Møller , L B & Grønskov , K 2020 , ' A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium ' , Investigative Ophthalmology & Visual Science , vol. 61 , no. 2 , 2761939 ....

مصطلحات موضوعية: Cone-rod dystrophy, Localization, Molecular genetics, Primary clilium, RAB28

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1167/iovs.61.2.29Test
https://curis.ku.dk/portal/da/publications/a-missense-mutation-in-rab28-in-a-family-with-conerod-dystrophy-and-postaxial-polydactyly-prevents-localization-of-rab28-to-the-primary-ciliumTest(04fe482f-7f7e-4ad0-8eb9-5a04127e550d).html
https://curis.ku.dk/ws/files/249478827/A_Missense_Mutation_in_RAB28_in_a_Family_with.pdfTest
http://www.scopus.com/inward/record.url?scp=85079783923&partnerID=8YFLogxKTest

المؤلفون: Ivanovski, Ivan, Djuric, Olivera, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, POLLAZZON, MARZIA, Rosato, Simonetta, CORDELLI, DUCCIO MARIA, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Ajmone, Paola Francesca, Badura-Stronka, Magdalena, Baldo, Chiara, Baldi, Maddalena, Bayat, Allan, Bigoni, Stefania, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, De Brasi, Daniele, Devriendt, Koenraad, Dinulos, Mary Beth, Hjortshøj, Tina Duelund, Epifanio, Roberta, Faravelli, Francesca, Fiumara, Agata, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Kuburovic, Vladimir, Kutkowska-Kazmierczak, Anna, Lacombe, Didier, Lo Rizzo, Caterina, Luchetti, Anna, Malbora, Baris, Mammi, Isabella, Mari, Francesca, Montorsi, Giulia, Moutton, Sebastien, Møller, Rikke S, Muschke, Petra, Nielsen, Jens Erik Klint, Obersztyn, Ewa, Pantaleoni, Chiara, Pellicciari, Alessandro, Pisanti, Maria Antonietta, Prpic, Igor, Poch-Olive, Maria Luisa, Raviglione, Federico, Renieri, Alessandra, Ricci, Emilia, Rivieri, Francesca, Santen, Gijs W, Savasta, Salvatore, Scarano, Gioacchino, Schanze, Ina, Selicorni, Angelo, Silengo, Margherita, Smigiel, Robert, Spaccini, Luigina, Sorge, Giovanni, Szczaluba, Krzysztof, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zenker, Martin, Conidi, Andrea, Zollino, Marcella, Rauch, Anita, Zweier, Christiane, Garavelli, Livia

المساهمون: Ivanovski, Ivan, Djuric, Olivera, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Rosato, Simonetta, Cordelli, DUCCIO MARIA, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Ajmone, Paola Francesca, Badura-Stronka, Magdalena, Baldo, Chiara, Baldi, Maddalena, Bayat, Allan, Bigoni, Stefania, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, De Brasi, Daniele, Devriendt, Koenraad, Dinulos, Mary Beth, Hjortshøj, Tina Duelund, Epifanio, Roberta, Faravelli, Francesca, Fiumara, Agata, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Kuburovic, Vladimir, Kutkowska-Kazmierczak, Anna, Lacombe, Didier, Lo Rizzo, Caterina, Luchetti, Anna, Malbora, Bari, Mammi, Isabella, Mari, Francesca, Montorsi, Giulia, Moutton, Sebastien, Møller, Rikke S, Muschke, Petra, Nielsen, Jens Erik Klint, Obersztyn, Ewa, Pantaleoni, Chiara, Pellicciari, Alessandro, Pisanti, Maria Antonietta, Prpic, Igor, Poch-Olive, Maria Luisa, Raviglione, Federico, Renieri, Alessandra, Ricci, Emilia, Rivieri, Francesca, Santen, Gijs W, Savasta, Salvatore, Scarano, Gioacchino, Schanze, Ina, Selicorni, Angelo, Silengo, Margherita, Smigiel, Robert, Spaccini, Luigina, Sorge, Giovanni, Szczaluba, Krzysztof, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zenker, Martin, Conidi, Andrea, Zollino, Marcella, Rauch, Anita, Zweier, Christiane, Garavelli, Livia

مصطلحات موضوعية: Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29300384; info:eu-repo/semantics/altIdentifier/wos/WOS:000445531800009; volume:20; issue:9; firstpage:965; lastpage:975; numberofpages:11; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11365/1033385Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85050603332

الإتاحة: https://doi.org/10.1038/gim.2017.221Test
http://hdl.handle.net/11365/1033385Test

المؤلفون: Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-yeboa, Kwame, Cerbone, Gaetana, Clayton-smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-politi, Anya, Stong, Nicholas, Strom, Tim M., Van Binsbergen, Ellen, Devriendt, Koenraad, Breckpot, Jeroen

المصدر: Verheije , R , Kupchik , G S , Isidor , B , Kroes , H Y , Lynch , S A , Hawkes , L , Hempel , M , Gelb , B D , Ghoumid , J , D’amours , G , Chandler , K , Dubourg , C , Loddo , S , Tümer , Z , Shaw-smith , C , Nizon , M , Shevell , M , Van Hoof , E , Anyane-yeboa , K , Cerbone , G , Clayton-smith , J , Cogné , B , Corre , P , Corveleyn , ....

مصطلحات موضوعية: Adolescent, Child, Preschool, Cleft Palate/genetics, Female, Heart Defects, Congenital/genetics, Heterozygote, Homeodomain Proteins/genetics, Humans, Intellectual Disability/genetics, Loss of Function Mutation, Male, Phenotype, Syndrome, Transcription Factors/genetics, Young Adult

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الإتاحة: https://doi.org/10.1038/s41431-018-0281-5Test
https://research.manchester.ac.uk/en/publications/d12d5425-5340-4c1b-8282-ece2b529e457Test
https://pure.manchester.ac.uk/ws/files/82045697/manuscript_final_submission.docxTest
http://www.mendeley.com/research/heterozygous-lossoffunction-variants-meis2-cause-triad-palatal-defects-congenital-heart-defects-inte-1Test