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1دورية أكاديمية
المؤلفون: Tokatly Latzer, Itay, Bertoldi, Mariarita, Blau, Nenad, DiBacco, Melissa L., Elsea, Sarah H., García-Cazorla, Àngels, Gibson, K. Michael, Gropman, Andrea L., Hanson, Ellen, Hoffman, Carolyn, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Knerr, Ina, Lee, Henry H.C., Malaspina, Patrizia, McConnell, Alice, Opladen, Thomas, Oppebøen, Mari, Rotenberg, Alexander, Walterfang, Mark, Wang-Tso, Lee, Wevers, Ron A., Roullet, Jean-Baptiste, Pearl, Phillip L.
المساهمون: Boston Childrens Hospital, NICHD
المصدر: Molecular Genetics and Metabolism ; volume 142, issue 1, page 108363 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108363Test
https://api.elsevier.com/content/article/PII:S1096719224002488?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719224002488?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A, Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H, Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H, Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A, Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D, Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L, Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad
المساهمون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A, Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H, Flint, Lisa, García-Cazorla, Àngel, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H, Hişmi, Burcu, Honzik, Toma, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A, Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D, Ong, Winnie Peitee, Opladen, Thoma, Oppeboen, Mari, Pearl, Phillip L, Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad
مصطلحات موضوعية: ACMG, Dopamine, Neurotransmitter disorder, Serotonin, Variant effect prediction
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37348148; info:eu-repo/semantics/altIdentifier/wos/WOS:001037197400001; volume:139; issue:3; firstpage:1; lastpage:9; numberofpages:9; journal:MOLECULAR GENETICS AND METABOLISM; https://hdl.handle.net/11562/1097586Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85162242618; https://doi.org/10.1016/j.ymgme.2023.107624Test
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3دورية أكاديمية
المؤلفون: Yıldız, Yılmaz, Kuseyri Hübschmann, Oya, Akgöz Karaosmanoğlu, Ayça, Manti, Filippo, Karaca, Meryem, Schwartz, Ida Vanessa D, Pons, Roser, López-Laso, Eduardo, Palacios, Natalia Alexandra Julia, Porta, Francesco, Kavecan, Ivana, Balcı, Mehmet Cihan, Dy-Hollins, Marisela E, Wong, Suet-Na, Oppebøen, Mari, Medeiros, Leonardo Simão, de Paula, Leila Cristina Pedroso, García-Cazorla, Angeles, Hoffmann, Georg F, Jeltsch, Kathrin, Leuzzi, Vincenzo, Gökçay, Gülden, Hübschmann, Daniel, Harting, Inga, Özön, Z Alev, Sivri, Serap, Opladen, Thomas
المساهمون: Yıldız, Yılmaz, Kuseyri Hübschmann, Oya, Akgöz Karaosmanoğlu, Ayça, Manti, Filippo, Karaca, Meryem, Schwartz, Ida Vanessa D, Pons, Roser, López-Laso, Eduardo, Palacios, Natalia Alexandra Julia, Porta, Francesco, Kavecan, Ivana, Balcı, Mehmet Cihan, Dy-Hollins, Marisela E, Wong, Suet-Na, Oppebøen, Mari, Medeiros, Leonardo Simão, de Paula, Leila Cristina Pedroso, García-Cazorla, Angele, Hoffmann, Georg F, Jeltsch, Kathrin, Leuzzi, Vincenzo, Gökçay, Gülden, Hübschmann, Daniel, Harting, Inga, Özön, Z Alev, Sivri, Serap, Opladen, Thomas
مصطلحات موضوعية: biogenic amine, hyperprolactinemia, hypogonadism, neurotransmitter disorder, prolactinoma, tetrahydrobiopterin (BH4) deficiency
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37452721; info:eu-repo/semantics/altIdentifier/wos/WOS:001034370300001; issue:accepted July 2023; numberofpages:16; journal:JOURNAL OF INHERITED METABOLIC DISEASE; https://hdl.handle.net/11573/1689253Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165554219
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4دورية أكاديمية
المؤلفون: Salvador, Cathrin Lytomt, Oppebøen, Mari, Østeby Vassli, Anja, Pfeiffer, Helle Cecilie, Varhaug, Kristin Nielsen, Elgstøen, Katja B. Prestø, Yazdani, Mazyar
المصدر: Pediatric Neurology ; 68-76 ; 143
وصف الملف: application/pdf
العلاقة: urn:issn:0887-8994; https://hdl.handle.net/11250/3121278Test; https://doi.org/10.1016/j.pediatrneurol.2023.02.016Test; cristin:2159015; Pediatric Neurology. 2023, 143, 68-76.
الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2023.02.016Test
https://hdl.handle.net/11250/3121278Test -
5دورية أكاديمية
المؤلفون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Kuseyri Hübschmann, Oya, Hwu, Wuh Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad
المصدر: Himmelreich , N , Bertoldi , M , Alfadhel , M , Alghamdi , M A , Anikster , Y , Bao , X , Bashiri , F A , Zeev , B B , Bisello , G , Ceylan , A C , Chien , Y H , Choy , Y S , Elsea , S H , Flint , L , García-Cazorla , À , Gijavanekar , C , Gümüş , E Y , Hamad , M H , Hişmi , B , Honzik , T , Kuseyri Hübschmann , O , Hwu , W L , ....
العلاقة: https://research-information.bris.ac.uk/en/publications/e124cba8-b376-4981-a0d4-a4fff9a86fabTest
الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107647Test
https://doi.org/10.1016/j.ymgme.2023.107624Test
https://hdl.handle.net/1983/e124cba8-b376-4981-a0d4-a4fff9a86fabTest
https://research-information.bris.ac.uk/en/publications/e124cba8-b376-4981-a0d4-a4fff9a86fabTest
http://www.scopus.com/inward/record.url?scp=85165039598&partnerID=8YFLogxKTest -
6دورية أكاديمية
المؤلفون: Kuseyri Hübschmann, Oya, Mohr, Alexander, Friedman, Jennifer, Manti, Filippo, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Mercimek-Andrews, Saadet, Yildiz, Yilmaz, Pons, Roser, Kulhánek, Jan, Oppebøen, Mari, Koht, Jeanette Aimee, Podzamczer-Valls, Inés, Domingo-Jimenez, Rosario, Ibáñez, Salvador, Alcoverro-Fortuny, Oscar, Gómez-Alemany, Teresa, de Castro, Pedro, Alfonsi, Chiara, Zafeiriou, Dimitrios I, López-Laso, Eduardo, Guder, Philipp, Santer, René, Honzík, Tomáš, Hoffmann, Georg F, Garbade, Sven F, Sivri, H Serap, Leuzzi, Vincenzo, Jeltsch, Kathrin, García-Cazorla, Angeles, Opladen, Thomas, Harting, Inga
المساهمون: Kuseyri Hübschmann, Oya, Mohr, Alexander, Friedman, Jennifer, Manti, Filippo, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Mercimek-Andrews, Saadet, Yildiz, Yilmaz, Pons, Roser, Kulhánek, Jan, Oppebøen, Mari, Koht, Jeanette Aimee, Podzamczer-Valls, Iné, Domingo-Jimenez, Rosario, Ibáñez, Salvador, Alcoverro-Fortuny, Oscar, Gómez-Alemany, Teresa, de Castro, Pedro, Alfonsi, Chiara, Zafeiriou, Dimitrios I, López-Laso, Eduardo, Guder, Philipp, Santer, René, Honzík, Tomáš, Hoffmann, Georg F, Garbade, Sven F, Sivri, H Serap, Leuzzi, Vincenzo, Jeltsch, Kathrin, García-Cazorla, Angele, Opladen, Thoma, Harting, Inga
مصطلحات موضوعية: Inherited neurotransmitter disorders, monoamine, MRI, tetrahydrobiopterin deficiency
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33443316; info:eu-repo/semantics/altIdentifier/wos/WOS:000614533500001; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11573/1485450Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099973499
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7دورية أكاديمية
المؤلفون: Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., Assmann, Birgit, Fung, Cheuk-Wing, Guder, Philipp, Hong, Stacey Tay Kiat, Karall, Daniela, Kato, Mitsuhiro, Kavecan, Ivana, Koht, Jeanette Aimee, Kuster, Alice, Lücke, Thomas, Manti, Filippo, Mir, Pablo, Mühlhausen, Chris, Önenli Mungan, Halise Neslihan, Palacios, Natalia Alexandra Julia, Ramos, Joaquín Alejandro Fernández, Steel, Dora, Stevanović, Galina, Sykut-Cegielska, Jolanta, Verbeek, Marcel M., García-Cazorla, Angeles, Opladen, Thomas
المساهمون: Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., Assmann, Birgit, Fung, Cheuk-Wing, Guder, Philipp, Hong, Stacey Tay Kiat, Karall, Daniela, Kato, Mitsuhiro, Kavecan, Ivana, Koht, Jeanette Aimee, Kuster, Alice, Lücke, Thoma, Manti, Filippo, Mir, Pablo, Mühlhausen, Chri, Önenli Mungan, Halise Neslihan, Palacios, Natalia Alexandra Julia, Ramos, Joaquín Alejandro Fernández, Steel, Dora, Stevanović, Galina, Sykut-Cegielska, Jolanta, Verbeek, Marcel M., García-Cazorla, Angele, Opladen, Thomas
مصطلحات موضوعية: neurotransmitter disorder, dopamine, children
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34545092; info:eu-repo/semantics/altIdentifier/wos/WOS:000698606100017; volume:12; issue:1; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11573/1569596Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85115881692
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8دورية أكاديمية
المؤلفون: Pearson, Toni S, Gilbert, Laura, Opladen, Thomas, Garcia-Cazorla, Angeles, Mastrangelo, Mario, Leuzzi, Vincenzo, Tay, Stacy K H, Sykut-Cegielska, Jolanta, Pons, Roser, Mercimek-Andrews, Saadet, Kato, Mitsuhiro, Lücke, Thomas, Oppebøen, Mari, Kurian, Manju A, Steel, Dora, Manti, Filippo, Meeks, Kathleen D, Jeltsch, Kathrin, Flint, Lisa
المساهمون: Pearson, Toni S, Gilbert, Laura, Opladen, Thoma, Garcia-Cazorla, Angele, Mastrangelo, Mario, Leuzzi, Vincenzo, Tay, Stacy K H, Sykut-Cegielska, Jolanta, Pons, Roser, Mercimek-Andrews, Saadet, Kato, Mitsuhiro, Lücke, Thoma, Oppebøen, Mari, Kurian, Manju A, Steel, Dora, Manti, Filippo, Meeks, Kathleen D, Jeltsch, Kathrin, Flint, Lisa
مصطلحات موضوعية: dystonia-parkinsonism, gene therapy, natural history, neurotransmitter disorder, rare diseases
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32369189; info:eu-repo/semantics/altIdentifier/wos/WOS:000575169600024; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11573/1396140Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084612707
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9دورية أكاديمية
المؤلفون: Keller, Mareike, Brennenstuhl, Heiko, Kuseyri Hübschmann, Oya, Manti, Filippo, Julia Palacios, Natalia Alexandra, Friedman, Jennifer, Yıldız, Yılmaz, Koht, Jeanette Aimee, Wong, Suet-Na, Zafeiriou, Dimitrios I, López-Laso, Eduardo, Pons, Roser, Kulhánek, Jan, Jeltsch, Kathrin, Serrano-Lomelin, Jesus, Garbade, Sven F, Opladen, Thomas, Goez, Helly, International Working Group on Neurotransmitter related Disorders (iNTD), Burlina, Alberto, Cortès-Saladelafont, Elisenda, Fernández Ramos, Joaquín Alejandro, García-Cazorla, Angeles, Hoffmann, Georg F, Kiat Hong, Stacey Tay, Honzík, Tomáš, Kavecan, Ivana, Kurian, Manju A, Leuzzi, Vincenzo, Lücke, Thomas, Manzoni, Francesca, Mastrangelo, Mario, Mercimek-Andrews, Saadet, Mir, Pablo, Oppebøen, Mari, Pearson, Toni S, Sivri, H Serap, Steel, Dora, Stevanović, Galina, Fung, Cheuk-Wing
مصطلحات موضوعية: behavioral phenotype, cognitive impairment, iNTD, intelligence, neurotransmitter deficiencies, quality of life, Adolescent, Adult, Behavior, Child, Preschool, Cognitive Dysfunction, Female, Humans, Infant, Internationality, Male, Middle Aged, Neurotransmitter Agents, Phenotype, Registries, Young Adult
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10دورية أكاديمية
المؤلفون: Wassenberg, Tessa, Yıldız, YILMAZ, Opladen, Thomas, García-Cazorla, Angeles, Garbade, Sven F, Hübschmann, Daniel, Jeltsch, Kathrin, Hoffmann, Georg F, López-Laso, Eduardo, Kurian, Manju A, Kulhánek, Jan, Leuzzi, Vincenzo, Zafeiriou, Dimitrios I, Sivri, H Serap, Burlina, Alberto, Santer, René, Pearson, Toni S, Wong, Suet-Na, Mercimek-Andrews, Saadet, Friedman, Jennifer, Pons, Roser, Honzík, Tomáš, Porta, Francesco, Mastrangelo, Mario, Cortès-Saladelafont, Elisenda, Horvath, Gabriella, Kuseyri Hübschmann, Oya, Scholl-Bürgi, Sabine, Goez, Helly, Oppebøen, Mari, Kılavuz, Sebile
العلاقة: 5248574c-ae15-473a-a4ea-1f1b80e39c5f; https://avesis.hacettepe.edu.tr/publication/details/5248574c-ae15-473a-a4ea-1f1b80e39c5f/oaiTest
الإتاحة: https://doi.org/10.1038/s41467-021-25515-5Test
https://avesis.hacettepe.edu.tr/publication/details/5248574c-ae15-473a-a4ea-1f1b80e39c5f/oaiTest