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826140条记录,
  • Detection of SMA by discrimination of SMN1 and SMN2 using long-read sequencing (ONT) and artificial intelligence (AI)
    SCI-E CPCI-S
    作者: Kyriakidis, Chris;Galevski, David;Madjarov, Gjorgji;Nikov, Aleksandar;Nowicki, Grzegorz
    期刊: European Journal of Human Genetics,2024年32(SUPPL-1):281-282ISSN:1018-4813
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    Kyriakidis Chris,Galevski David,Madjarov Gjorgji,et al.Detection of SMA by discrimination of SMN1 and SMN2 using long-read sequencing (ONT) and artificial intelligence (AI)[J].281-282,2024,32(SUPPL-1):281-282.
    APA
    Kyriakidis Chris,Galevski David,Madjarov Gjorgji,Nikov Aleksandar,Nowicki Grzegorz,Kalka Rafal...Garrido Navas Carmen.(2024).Detection of SMA by discrimination of SMN1 and SMN2 using long-read sequencing (ONT) and artificial intelligence (AI).281-282,32(SUPPL-1),281-282.
    MLA
    Kyriakidis Chris,Galevski David,Madjarov Gjorgji,Nikov Aleksandar,Nowicki Grzegorz,Kalka Rafal,Schack Anne Kristine,Alapont Karmele,Krych Lukasz,Chaushevska Marija,Kyriakidis Dimitrios,Velkoski Zoran,and Garrido Navas Carmen."Detection of SMA by discrimination of SMN1 and SMN2 using long-read sequencing (ONT) and artificial intelligence (AI)."281-282 32.SUPPL-1(2024):281-282.
  • Genome-wide analysis of somatic noncoding mutation patterns in cancer
    SCI-E CPCI-S
    作者: Dietlein, Felix
    期刊: European Journal of Human Genetics,2024年32(SUPPL-1):86-86ISSN:1018-4813
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    Dietlein Felix.Genome-wide analysis of somatic noncoding mutation patterns in cancer[J].86-86,2024,32(SUPPL-1):86-86.
    APA
    Dietlein Felix.(2024).Genome-wide analysis of somatic noncoding mutation patterns in cancer.86-86,32(SUPPL-1),86-86.
    MLA
    Dietlein Felix."Genome-wide analysis of somatic noncoding mutation patterns in cancer."86-86 32.SUPPL-1(2024):86-86.
  • Genetic analysis in patients with androgen insensitivity syndrome - detection of a novel AR gene variant
    SCI-E CPCI-S
    作者: Gach, Agnieszka;Pinkier, Iwona;Salacinska, Kinga;Wysocka, Urszula;Kaluzewski, Tadeusz
    期刊: European Journal of Human Genetics,2024年32(SUPPL-1):133-133ISSN:1018-4813
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    Gach Agnieszka,Pinkier Iwona,Salacinska Kinga,et al.Genetic analysis in patients with androgen insensitivity syndrome - detection of a novel AR gene variant[J].133-133,2024,32(SUPPL-1):133-133.
    APA
    Gach Agnieszka,Pinkier Iwona,Salacinska Kinga,Wysocka Urszula,Kaluzewski Tadeusz.(2024).Genetic analysis in patients with androgen insensitivity syndrome - detection of a novel AR gene variant.133-133,32(SUPPL-1),133-133.
    MLA
    Gach Agnieszka,Pinkier Iwona,Salacinska Kinga,Wysocka Urszula,and Kaluzewski Tadeusz."Genetic analysis in patients with androgen insensitivity syndrome - detection of a novel AR gene variant."133-133 32.SUPPL-1(2024):133-133.
  • MANE Select in 2023: expanding the joint NCBI and EMBL-EBI transcript set
    SCI-E CPCI-S
    作者: Frankish, Adam;Loveland, Jane;Pujar, Shashikant;Astashyn, Alex;Bennett, Ruth
    期刊: European Journal of Human Genetics,2024年32(SUPPL-1):63-63ISSN:1018-4813
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    Frankish Adam,Loveland Jane,Pujar Shashikant,et al.MANE Select in 2023: expanding the joint NCBI and EMBL-EBI transcript set[J].63-63,2024,32(SUPPL-1):63-63.
    APA
    Frankish Adam,Loveland Jane,Pujar Shashikant,Astashyn Alex,Bennett Ruth,Berry Andrew...Murphy Terence.(2024).MANE Select in 2023: expanding the joint NCBI and EMBL-EBI transcript set.63-63,32(SUPPL-1),63-63.
    MLA
    Frankish Adam,Loveland Jane,Pujar Shashikant,Astashyn Alex,Bennett Ruth,Berry Andrew,Cox Eric,Davidson Claire,Ermolaeva Olga,Farrell Catherine,Fatima Reham,Goldfarb Tamara,Gonzalez Jose M.,Haddad Diana,Hardy Matt,Hunt Toby,Jackson John,Joardar Vinita,Kay Michael,Kodali Vamsi,McGarvey Kelly,Mudge Jonathan,Murphy Michael,Rangwala Sanjida,Thibaud-Nissen Francoise,Vatsan Anjana,Wallin Craig,Webb David,Cunningham Fiona,and Murphy Terence."MANE Select in 2023: expanding the joint NCBI and EMBL-EBI transcript set."63-63 32.SUPPL-1(2024):63-63.
  • Impact of anakinra on disordered movement in Sanfilippo syndrome
    SCI-E CPCI-S
    作者: Jonathan Acevedo;Agnes Chen;Pak Youngju;Anna Luzzi;Adolfo Morales
    期刊: Molecular Genetics and Metabolism,2024年141(2):107742ISSN:1096-7192
    DOI: 10.1016/j.ymgme.2023.107742
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    Jonathan Acevedo,Agnes Chen,Pak Youngju,et al.Impact of anakinra on disordered movement in Sanfilippo syndrome[J].107742,2024,141(2):107742.
    APA
    Jonathan Acevedo,Agnes Chen,Pak Youngju,Anna Luzzi,Adolfo Morales,Gal Bitan...Lynda Polgreen.(2024).Impact of anakinra on disordered movement in Sanfilippo syndrome.107742,141(2),107742.
    MLA
    Jonathan Acevedo,Agnes Chen,Pak Youngju,Anna Luzzi,Adolfo Morales,Gal Bitan,Michelina Iacovino,Cara O'Neill,Julie B. Eisengart,and Lynda Polgreen."Impact of anakinra on disordered movement in Sanfilippo syndrome."107742 141.2(2024):107742.
  • Cell free fetal DNA testing in twin pregnancies
    SCI-E CPCI-S
    作者: Madrigal, Irene;Gracia, Marta;Munoz, Laura;Badenas, Celia
    期刊: European Journal of Human Genetics,2024年32(SUPPL-1):111-111ISSN:1018-4813
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    Madrigal Irene,Gracia Marta,Munoz Laura,et al.Cell free fetal DNA testing in twin pregnancies[J].111-111,2024,32(SUPPL-1):111-111.
    APA
    Madrigal Irene,Gracia Marta,Munoz Laura,Badenas Celia.(2024).Cell free fetal DNA testing in twin pregnancies.111-111,32(SUPPL-1),111-111.
    MLA
    Madrigal Irene,Gracia Marta,Munoz Laura,and Badenas Celia."Cell free fetal DNA testing in twin pregnancies."111-111 32.SUPPL-1(2024):111-111.
  • Low mitochondrial content marks high health status of human euploid embryos
    SCI-E CPCI-S
    作者: Popadin, Konstantin;Ri, Maxim;Ree, Natalia;Tofilo, Maria;Zvereva, Irina
    期刊: European Journal of Human Genetics,2024年32(SUPPL-1):101-101ISSN:1018-4813
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    Popadin Konstantin,Ri Maxim,Ree Natalia,et al.Low mitochondrial content marks high health status of human euploid embryos[J].101-101,2024,32(SUPPL-1):101-101.
    APA
    Popadin Konstantin,Ri Maxim,Ree Natalia,Tofilo Maria,Zvereva Irina,Kirillova Anastasia,Mazunin Ilya.(2024).Low mitochondrial content marks high health status of human euploid embryos.101-101,32(SUPPL-1),101-101.
    MLA
    Popadin Konstantin,Ri Maxim,Ree Natalia,Tofilo Maria,Zvereva Irina,Kirillova Anastasia,and Mazunin Ilya."Low mitochondrial content marks high health status of human euploid embryos."101-101 32.SUPPL-1(2024):101-101.
  • Oculo-auricular syndrome in a new multiplex family does not link to HMX1 or its downstream enhancer
    SCI-E CPCI-S
    作者: Altunoglu, Umut;Kaya, Mert;Satkin, N. Bilge;Bertoli-Avella, Aida;Borklu, Esra
    期刊: European Journal of Human Genetics,2024年32(SUPPL-1):241-241ISSN:1018-4813
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    Altunoglu Umut,Kaya Mert,Satkin N. Bilge,et al.Oculo-auricular syndrome in a new multiplex family does not link to HMX1 or its downstream enhancer[J].241-241,2024,32(SUPPL-1):241-241.
    APA
    Altunoglu Umut,Kaya Mert,Satkin N. Bilge,Bertoli-Avella Aida,Borklu Esra.(2024).Oculo-auricular syndrome in a new multiplex family does not link to HMX1 or its downstream enhancer.241-241,32(SUPPL-1),241-241.
    MLA
    Altunoglu Umut,Kaya Mert,Satkin N. Bilge,Bertoli-Avella Aida,and Borklu Esra."Oculo-auricular syndrome in a new multiplex family does not link to HMX1 or its downstream enhancer."241-241 32.SUPPL-1(2024):241-241.
  • Investigating lncRNA expression patterns in human oocytes from patients with polycystic ovaries
    SCI-E CPCI-S
    作者: Aktan, Mehmet;Aytacoglu, Hakan;Ozbakir, Burcu;Tulay, Pinar
    期刊: European Journal of Human Genetics,2024年32(SUPPL-1):96-96ISSN:1018-4813
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    Aktan Mehmet,Aytacoglu Hakan,Ozbakir Burcu,et al.Investigating lncRNA expression patterns in human oocytes from patients with polycystic ovaries[J].96-96,2024,32(SUPPL-1):96-96.
    APA
    Aktan Mehmet,Aytacoglu Hakan,Ozbakir Burcu,Tulay Pinar.(2024).Investigating lncRNA expression patterns in human oocytes from patients with polycystic ovaries.96-96,32(SUPPL-1),96-96.
    MLA
    Aktan Mehmet,Aytacoglu Hakan,Ozbakir Burcu,and Tulay Pinar."Investigating lncRNA expression patterns in human oocytes from patients with polycystic ovaries."96-96 32.SUPPL-1(2024):96-96.
  • Dynamic Whole-Exome Sequencing (WES) analysis in a large pediatric cohort of patients with neurodevelopmental disorders and epilepsy
    SCI-E CPCI-S
    作者: Paccagnella, Elisa;Spedicati, Beatrice;Bonati, Maria Teresa;Mazza, Daniela;Morgan, Anna
    期刊: European Journal of Human Genetics,2024年32(SUPPL-1):214-215ISSN:1018-4813
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    Paccagnella Elisa,Spedicati Beatrice,Bonati Maria Teresa,et al.Dynamic Whole-Exome Sequencing (WES) analysis in a large pediatric cohort of patients with neurodevelopmental disorders and epilepsy[J].214-215,2024,32(SUPPL-1):214-215.
    APA
    Paccagnella Elisa,Spedicati Beatrice,Bonati Maria Teresa,Mazza Daniela,Morgan Anna,Zampieri Stefania...Musante Luciana.(2024).Dynamic Whole-Exome Sequencing (WES) analysis in a large pediatric cohort of patients with neurodevelopmental disorders and epilepsy.214-215,32(SUPPL-1),214-215.
    MLA
    Paccagnella Elisa,Spedicati Beatrice,Bonati Maria Teresa,Mazza Daniela,Morgan Anna,Zampieri Stefania,Costa Paola,Zanus Caterina,Girotto Giorgia,and Musante Luciana."Dynamic Whole-Exome Sequencing (WES) analysis in a large pediatric cohort of patients with neurodevelopmental disorders and epilepsy."214-215 32.SUPPL-1(2024):214-215.
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