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M. Vujić

Neurobiology of Disease, Nature Genetics, Archives of Disease in Childhood, American journal of medical genetics, Journal of the American Society of Nephrology, American Journal of Human Genetics, Prenatal Diagnosis, Genetic Testing, European Child and Adolescent Psychiatry Show more
10
Role
Title
Level Year L/R
🐜 Identification of the gene responsible for Best macular dystrophy
18 auth. K. Petrukhin, Markus J. Koisti, B. Bakall, Wen Li, Guochun Xie, Towa Marknell, O. Sandgren, K. Forsman, G. Holmgren, S. Andreasson, ... M. Vujić, A. Bergen, Valarie McGarty-Dugan, D. Figueroa, C. Austin, M. Metzker, C. Caskey, C. Wadelius 		9 1998
9
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🐬 Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden
S. Óskarsdóttir, M. Vujić, A. Fasth 		8 2004
8
🐬
🐜 Subtelomeric rearrangements detected in patients with idiopathic mental retardation.
9 auth. B. Anderlid, J. Schoumans, G. Annéren, S. Sahlén, M. Kyllerman, M. Vujić, ... B. Hagberg, E. Blennow, M. Nordenskjöld 		7 2002
7
🐜
🦁 Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.
12 auth. M. Vujić, C. M. Heyer, E. Ars, K. Hopp, A. Markoff, C. Orndal, ... B. Rudenhed, S. Nasr, V. Torres, R. Torra, N. Bogdanova, P. Harris 		7 2010
7
🦁
🐜 Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
24 auth. P. Heinz-Erian, T. Müller, Birgit Krabichler, M. Schranz, C. Becker, F. Rüschendorf, P. Nürnberg, B. Rossier, M. Vujić, I. Booth, ... C. Holmberg, C. Wijmenga, G. Grigelioniene, C. Kneepkens, Š. Rosipal, M. Mistrik, M. Kappler, L. Michaud, L. Dóczy, V. Siu, M. Krantz, H. Zoller, G. Utermann, A. Janecke 		6 2009
6
🐜
🐜 Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescence in situ hybridization
7 auth. E. Blennow, T. Bui, U. Kristoffersson, M. Vujić, G. Annéren, E. Holmberg, ... M. Nordenskjöld 		6 1994
6
🐜
🐬 Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients.
A. Erlandson, L. Samuelsson, B. Hagberg, M. Kyllerman, M. Vujić, J. Wahlström 		6 2003
6
🐬
🐜 Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease
15 auth. V. M. James, A. Bode, S. Chung, J. Gill, M. Nielsen, Frances M. Cowan, M. Vujić, R. Thomas, M. Rees, K. Harvey, ... A. Keramidas, M. Topf, I. Ginjaar, J. Lynch, R. Harvey 		5 2013
5
🐜
🐜 Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease
15 auth. V. M. James, A. Bode, S. Chung, J. Gill, M. Nielsen, Frances M. Cowan, M. Vujić, R. Thomas, M. Rees, K. Harvey, ... A. Keramidas, M. Topf, I. Ginjaar, J. Lynch, R. Harvey 		5 2013
5
🐜
🐜 Maternal origin of inv dup(15) chromosomes in infantile autism
7 auth. T. Martinsson, T. Johannesson, M. Vujić, A. Sjöstedt, S. Steffenburg, C. Gillberg, ... J. Wahlström 		5 1996
5
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