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Filtros : "Straub, Volker" Limpar

Filtros

Collaboration
Normalized affiliation
Non normalized affiliation
- mcgill university - dept. of human genetics and medicine, montreal, canada (1)
- the research institute of the mcgill university health centre, montreal, canada (1)
- the research institute of the mcgill university helath centre, montreal, canada (1)
- university of essen - dept. of general pediatrics and neuropediatrics, essen, germany (1)

Artigo de periodico
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment (2017)
Wiessner, Manuela; Roos, Andreas; Munn, Christopher J.; Viswanathan, Ranjith; Whyte, Tamieka; Cox, Dan; Schoser, Benedikt; Sewry, Caroline; Roper, Helen; Phadke, Rahul; Bettolo, Chiara Marini; Barresi, Rita; Charlton, Richard; Bönnemann, Carsten G.; Abath Neto, Osório; Reed, Umbertina C.; Zanoteli, Edmar; Moreno, Cristiane Araújo Martins; Ertl-Wagner, Birgit; Stucka, Rolf; De Goede, Christian; Silva, Tamiris Borges da; Hathazi, Denisa; Dell’Aica, Margherita; Zahedi, René P.; Thiele, Simone; Müller, Juliane; Kingston, Helen; Müller, Susanna; Curtis, Elizabeth; Walter, Maggie C.; Strom, Tim M.; Straub, Volker; Bushby, Kate; Muntoni, Francesco; Swan, Laura E.; Lochmüller, Hanns; Senderek, Jan
Source: American Journal of Human Genetics. Unidade: FM
Subjects: DISTROFIA MUSCULAR, COMPROMETIMENTO COGNITIVO LEVE, MUTAÇÃO, ENZIMAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
WIESSNER, Manuela et al. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. American Journal of Human Genetics, v. 100, n. 3, p. 523-536, 2017Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2017.01.024. Acesso em: 06 nov. 2024.
APA
Wiessner, M., Roos, A., Munn, C. J., Viswanathan, R., Whyte, T., Cox, D., et al. (2017). Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. American Journal of Human Genetics, 100( 3), 523-536. doi:10.1016/j.ajhg.2017.01.024
NLM
Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Bettolo CM, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Moreno CAM, Ertl-Wagner B, Stucka R, De Goede C, Silva TB da, Hathazi D, Dell’Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment [Internet]. American Journal of Human Genetics. 2017 ; 100( 3): 523-536.[citado 2024 nov. 06 ] Available from: https://doi.org/10.1016/j.ajhg.2017.01.024
Vancouver
Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Bettolo CM, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Moreno CAM, Ertl-Wagner B, Stucka R, De Goede C, Silva TB da, Hathazi D, Dell’Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment [Internet]. American Journal of Human Genetics. 2017 ; 100( 3): 523-536.[citado 2024 nov. 06 ] Available from: https://doi.org/10.1016/j.ajhg.2017.01.024
Artigo de periodico
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations (2005)
Frosk, Patrick; Greenberg, Cheryl R.; Tennese, Alysa A. P.; Lamont, Ryan; Nylen, Edward; Hirst, Cheryl; Frappier, Danielle; Rolsin, Micole M.; Zaik, Michaela; Bushby, Kate; Straub, Volker; Zatz, Mayana ; Paula, Flavia de; Morgan, Kenneth; Fujiwara, T. Mary; Wrogemann, Klaus
Source: Human Mutation. Unidade: IB
Subjects: DISTROFIA MUSCULAR, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FROSK, Patrick et al. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. Human Mutation, v. 25, n. 1, p. 38-44, 2005Tradução . . Disponível em: https://doi.org/10.1002/humu.20110. Acesso em: 06 nov. 2024.
APA
Frosk, P., Greenberg, C. R., Tennese, A. A. P., Lamont, R., Nylen, E., Hirst, C., et al. (2005). The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. Human Mutation, 25( 1), 38-44. doi:10.1002/humu.20110
NLM
Frosk P, Greenberg CR, Tennese AAP, Lamont R, Nylen E, Hirst C, Frappier D, Rolsin MM, Zaik M, Bushby K, Straub V, Zatz M, Paula F de, Morgan K, Fujiwara TM, Wrogemann K. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations [Internet]. Human Mutation. 2005 ; 25( 1): 38-44.[citado 2024 nov. 06 ] Available from: https://doi.org/10.1002/humu.20110
Vancouver
Frosk P, Greenberg CR, Tennese AAP, Lamont R, Nylen E, Hirst C, Frappier D, Rolsin MM, Zaik M, Bushby K, Straub V, Zatz M, Paula F de, Morgan K, Fujiwara TM, Wrogemann K. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations [Internet]. Human Mutation. 2005 ; 25( 1): 38-44.[citado 2024 nov. 06 ] Available from: https://doi.org/10.1002/humu.20110

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