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

الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107624Test
https://hdl.handle.net/11562/1097586Test

المؤلفون: Roubertie, Agathe, Opladen, Thomas, Brennenstuhl, Heiko, Kuseyri Hübschmann, Oya, Flint, Lisa, Willemsen, Michel A., Leuzzi, Vincenzo, Cazorla, Angels Garcia, Kurian, Manju A., François‐Heude, Marie Céline, Hwu, Paul, Zeev, Bruria Ben, Kiening, Karl, Roujeau, Thomas, Pons, Roser, Pearson, Toni S.

المساهمون: Medizinischen Fakultät Heidelberg, Universität Heidelberg

المصدر: Journal of Inherited Metabolic Disease ; volume 47, issue 3, page 463-475 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1002/jimd.12649Test

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

المؤلفون: Roubertie, Agathe, Opladen, Thomas, Brennenstuhl, Heiko, Kuseyri Hübschmann, Oya, Flint, Lisa, Willemsen, Michel A., Leuzzi, Vincenzo, Cazorla, Angels Garcia, Kurian, Manju A., François‐Heude, Marie Céline, Hwu, Paul, Zeev, Bruria Ben, Kiening, Karl, Roujeau, Thomas, Pons, Roser, Pearson, Toni S.

المصدر: Journal of Inherited Metabolic Disease; May2024, Vol. 47 Issue 3, p463-475, 13p

المؤلفون: Badnjarevic, Ivana, Moyer, Kelly, Bertoldi, Mariarita, Opladen, Thomas, Flint, Lisa

المصدر: Journal of Inherited Metabolic Disease; May2024, Vol. 47 Issue 3, p413-416, 4p

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

الإتاحة: https://doi.org/10.1002/jimd.12247Test
http://hdl.handle.net/11573/1396140Test

المؤلفون: Badnjarevic, Ivana, Moyer, Kelly, Bertoldi, Mariarita, Opladen, Thomas, Flint, Lisa

المساهمون: Badnjarevic, Ivana, Moyer, Kelly, Bertoldi, Mariarita, Opladen, Thoma, Flint, Lisa

مصطلحات موضوعية: rare inherited neurotransmitter diseases (ND), diagnosis

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37622614; info:eu-repo/semantics/altIdentifier/wos/WOS:001068772100001; volume:First published online: 25 August 2023; firstpage:1; lastpage:4; numberofpages:4; journal:JOURNAL OF INHERITED METABOLIC DISEASE; https://hdl.handle.net/11562/1113527Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85171586569; https://doi.org/10.1002/jimd.12675Test

الإتاحة: https://doi.org/10.1002/jimd.12675Test
https://hdl.handle.net/11562/1113527Test

المؤلفون: Harper, Jonathan D., Desai, Alana C., Maalouf, Naim M., Yang, Hongqiu, Antonelli, Jodi A., Tasian, Gregory E., Lai, H. Henry, Reese, Peter P., Curatolo, Michele, Kirkali, Ziya, Al-Khalidi, Hussein R., Wessells, Hunter, Scales, Charles D., Ziemba, Justin, Funsten, Emily, Mussell, Adam, McCune, Rebecca, Shah, Salima, Jain, Arushi, Selman-Fermin, Antoine, Johnson, Brett A., Pearle, Margaret S., Baker, Linda A., Piskator, Brooke, Obiaro, Joyce, Rangel, Cynthia, Hill, Martinez, Edwards, Todd, Sorensen, Mathew, Sweet, Robert, Baxter, Tristan, Covert, Holly, Ayala, Elsa, Flint, Lisa, Cho, Grace, Marshall, Grace, Du, Kefu, Mueller, Susan, Black, Linda, Klim, Aleksandra

المصدر: Journal of Urology ; volume 209, issue 5, page 971-980 ; ISSN 0022-5347 1527-3792

الإتاحة: https://doi.org/10.1097/ju.0000000000003183Test

المؤلفون: Wassenberg, Tessa, Molero Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg F., Assmann, Birgit, Blau, Nenad, Garcia Cazorla, Angeles, Artuch, Rafael, Pons, Roser, Pearson, Toni S., Leuzzi, Vincenco, MASTRANGELO, Mario, Pearl, Phillip L., Lee, Wang Tso, Kurian, Manju A., Heales, Simon, Flint, Lisa, Verbeek, Marcel, Willemsen, Michèl, Opladen, Thomas

المساهمون: Wassenberg, Tessa, Molero Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg F., Assmann, Birgit, Blau, Nenad, Garcia Cazorla, Angele, Artuch, Rafael, Pons, Roser, Pearson, Toni S., Leuzzi, Vincenco, Mastrangelo, Mario, Pearl, Phillip L., Lee, Wang Tso, Kurian, Manju A., Heales, Simon, Flint, Lisa, Verbeek, Marcel, Willemsen, Michèl, Opladen, Thomas

مصطلحات موضوعية: AADC deficiency, aromatic l-amino acid decarboxylase deficiency, dopamine, grade, guideline, infantile dystonia-parkinsonism, neurotransmitter, serotonin, sign, medicine (all), genetics (clinical), pharmacology (medical)

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28100251; info:eu-repo/semantics/altIdentifier/wos/WOS:000392253400001; volume:12; issue:1; firstpage:1; lastpage:21; numberofpages:21; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11573/930502Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85009814696; http://www.ojrd.comTest/

الإتاحة: https://doi.org/10.1186/s13023-016-0522-zTest
http://hdl.handle.net/11573/930502Test
http://www.ojrd.comTest/

المؤلفون: Benshoff, James M., Flint, Lisa J.

المصدر: Journal of College Counseling. Spr 2006 9(1):20-20.

تمت مراجعته من قبل الزملاء: Y

Page Count: 9

الواصفات: Nontraditional Students, Periodicals, Higher Education, Counseling, Journal Articles, Content Analysis, Counseling Techniques, Research, Intervention

الوصول الحر: http://www.counseling.orgTest