S. M. Maas


AuthID: R-00F-S3J

Publicações a aguardarem confirmação

1
TITLE: A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome  Full Text
AUTHORS: Ben Mahmoud, Afif; Kishikawa, Shotaro; Gupta, Vijay; Leach, Natalia T.; Shen, Yiping; Moldovan, Oana; Goel, Himanshu; Hopper, Bruce; Ranguin, Kara; Gruchy, Nicolas; Maas, Saskia M.; Lacassie, Yves; Kim, Soo Hyun; Kim, Woo Yang; Quade, Bradley J.; Morton, Cynthia C.; Kim, Cheol Hee; Layman, Lawrence C.; Kim, Hyung Goo;
PUBLISHED: 2023, SOURCE: SCIENTIFIC REPORTS, VOLUME: 13, ISSUE: 1
INDEXED IN: Scopus WOS
2
TITLE: A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome  Full Text
AUTHORS: Ben Mahmoud, Afif; Kishikawa, Shotaro; Gupta, Vijay; Leach, Natalia T.; Shen, Yiping; Moldovan, Oana; Goel, Himanshu; Hopper, Bruce; Ranguin, Kara; Gruchy, Nicolas; Maas, Saskia M.; Lacassie, Yves; Kim, Soo Hyun; Kim, Woo Yang; Quade, Bradley J.; Morton, Cynthia C.; Kim, Cheol Hee; Layman, Lawrence C.; Kim, Hyung Goo;
PUBLISHED: 2023, SOURCE: SCIENTIFIC REPORTS, VOLUME: 13, ISSUE: 1
INDEXED IN: WOS
3
TITLE: Users' Perspective on the AI-Based Smartphone PROTEIN App for Personalized Nutrition and Healthy Living: A Modified Technology Acceptance Model (mTAM) Approach
AUTHORS: Dias, Sofia Balula; Oikonomidis, Yannis; Diniz, Jose Alves; Baptista, Fatima; Carnide, Filomena; Bensenousi, Alex; Botana, Jose Maria; Tsatsou, Dorothea; Stefanidis, Kiriakos; Gymnopoulos, Lazaros; Dimitropoulos, Kosmas; Daras, Petros; Argiriou, Anagnostis; Rouskas, Konstantinos; Wilson Barnes, Saskia; Hart, Kathryn; Merry, Neil; Russell, Duncan; Konstantinova, Jelizaveta; Lalama, Elena; Pfeiffer, Andreas; Kokkinopoulou, Anna; Hassapidou, Maria; Pagkalos, Ioannis; Patra, Elena; Buys, Roselien; Cornelissen, Veronique; Batista, Ana; Cobello, Stefano; Milli, Elena; Vagnozzi, Chiara; Bryant, Sheree; Maas, Simon; Bacelar, Pedro; Gravina, Saverio; Vlaskalin, Jovana; Brkic, Boris; Telo, Goncalo; Mantovani, Eugenio; Gkotsopoulou, Olga; Iakovakis, Dimitrios; Hadjidimitriou, Stelios; Charisis, Vasileios; Hadjileontiadis, Leontios J.; ...More
PUBLISHED: 2022, SOURCE: FRONTIERS IN NUTRITION, VOLUME: 9
INDEXED IN: Scopus WOS
4
TITLE: PeRsOnalised nutriTion for hEalthy livINg: The PROTEIN project  Full Text
AUTHORS: Wilson Barnes, S; Gymnopoulos, LP; Dimitropoulos, K; Solachidis, V; Rouskas, K; Russell, D; Oikonomidis, Y; Hadjidimitriou, S; Botana, JM; Brkic, B; Mantovani, E; Gravina, S; Telo, G; Lalama, E; Buys, R; Hassapidou, M; Dias, SB; Batista, A; Perone, L; Bryant, S; Maas, S; Cobello, S; Bacelar, P; Lanham New, SA; Hart, K; ...More
PUBLISHED: 2021, SOURCE: NUTRITION BULLETIN, VOLUME: 46, ISSUE: 1
INDEXED IN: Scopus WOS
5
TITLE: Novel Imaging Techniques in Rheumatic Diseases
AUTHORS: Robert Hemke; Vasco Mascarenhas; Mario Maas;
PUBLISHED: 2018, SOURCE: SEMINARS IN MUSCULOSKELETAL RADIOLOGY, VOLUME: 22, ISSUE: 2
INDEXED IN: Scopus WOS
6
TITLE: Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients  Full Text
AUTHORS: Santen, GWE; Aten, E; Vulto van Silfhout, AT; Pottinger, C; van Bon, BWM; van Minderhout, IJHM; Snowdowne, R; van der Lans, CAC; Boogaard, M; Linssen, MML; Vijfhuizen, L; van der Wielen, MJR; Vollebregt, MJE; Breuning, MH; Kriek, M; van Haeringen, A; den Dunnen, JT; Hoischen, A; Clayton Smith, J; de Vries, BBA; Hennekam, RCM; van Belzen, MJ; Almureikhi, M; Baban, A; Barbosa, M; Ben Omran, T; Berry, K; Bigoni, S; Boute, O; Brueton, L; van der Burgt, I; Canham, N; Chandler, KE; Chrzanowska, K; Collins, AL; de Toni, T; Dean, J; den Hollander, NS; Flore, LA; Fryer, A; Gardham, A; Graham, JM; Harrison, V; Horn, D; Jongmans, MC; Josifova, D; Kant, SG; Kapoor, S; Kingston, H; Kini, U; Kleefstra, T; Krajewska-Walasek Malgorzata; Kramer, N; Maas, SM; Maciel, P ; Mancini Grazia M.S.; Maystadt, I; McKee, S; Milunsky, JM; Nampoothiri, S; Newbury Ecob, R; Nikkel, SM; Parker, MJ; Perez Jurado, LA; Robertson, SP; Rooryck, C; Shears, D; Silengo, M; Singh, A; Smigiel, R; Soares, G; Splitt, M; Stewart, H; Sweeney, E; Tassabehji, M; Temple, IK; Tuysuz, B; van Eerde, AM; Vincent Delorme, C; Wilson, LC; Yesil, G; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef
7
TITLE: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome  Full Text
AUTHORS: Jeroen K J Van Houdt; Beata Anna Nowakowska; Sergio B Sousa; Barbera D C van Schaik; Eve Seuntjens; Nelson Avonce; Alejandro Sifrim; Omar A Abdul Rahman; Marie Jose H van den Boogaard; Armand Bottani; Marco Castori; Valerie Cormier Daire; Matthew A Deardorff; Isabel Filges; Alan Fryer; Jean Pierre Fryns; Simone Gana; Livia Garavelli; Gabriele Gillessen Kaesbach; Bryan D Hall; Denise Horn; Danny Huylebroeck; Jakub Klapecki; Malgorzata Krajewska Walasek; Alma Kuechler; Matthew A Lines; Saskia Maas; Kay D MacDermot; Shane McKee; Alex Magee; Stella A de Man; Yves Moreau; Fanny Morice Picard; Ewa Obersztyn; Jacek Pilch; Elizabeth Rosser; Nora Shannon; Irene Stolte Dijkstra; Patrick Van Dijck; Catheline Vilain; Annick Vogels; Emma Wakeling; Dagmar Wieczorek; Louise Wilson; Orsetta Zuffardi; Antoine H C van Kampen; Koenraad Devriendt; Raoul Hennekam; Joris Robert Vermeesch; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 100

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