S. M. Maas
AuthID: R-00F-S3J
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
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
Scopus WOS2
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
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
WOS3
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; ...More
PUBLISHED: 2021, SOURCE: NUTRITION BULLETIN, VOLUME: 46, ISSUE: 1
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; ...More
PUBLISHED: 2021, SOURCE: NUTRITION BULLETIN, VOLUME: 46, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS4
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
AUTHORS: Robert Hemke; Vasco Mascarenhas; Mario Maas;
PUBLISHED: 2018, SOURCE: SEMINARS IN MUSCULOSKELETAL RADIOLOGY, VOLUME: 22, ISSUE: 2
INDEXED IN: Scopus WOS
Scopus WOS5
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; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 11
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; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 11
6
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; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 4
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; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 4
