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.
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.
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.
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.
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.
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.
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.