P.109 Diagnostic Yield of Targeted Exome Sequencing in West Syndrome
Parfyonov, M, Guella, I, Evans, DM, Adam, S, DeGuzman, C, Van Allen, MI, Boelman, C, Nelson, TN, Farrer, MJ, Connolly, MB, Demos, M
Published in Canadian journal of neurological sciences (01.11.2021)
Published in Canadian journal of neurological sciences (01.11.2021)
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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham, Jr, John M, Hevner, Robert, Dobyns, William B, O'Driscoll, Mark, Mirzaa, Ghayda M
Published in Brain (London, England : 1878) (01.10.2017)
Published in Brain (London, England : 1878) (01.10.2017)
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Reduction in Neural-Tube Defects after Folic Acid Fortification in Canada
De Wals, Philippe, Tairou, Fassiatou, Van Allen, Margot I, Uh, Soo-Hong, Lowry, R. Brian, Sibbald, Barbara, Evans, Jane A, Van den Hof, Michiel C, Zimmer, Pamela, Crowley, Marian, Fernandez, Bridget, Lee, Nora S, Niyonsenga, Theophile
Published in The New England journal of medicine (12.07.2007)
Published in The New England journal of medicine (12.07.2007)
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Journal Article
A.01 Targeted analysis of whole exome sequencing and genotype-phenotype correlation in epileptic encephalopathies
Buerki, SE, Toyota, EB, Guella, I, McKenzie, M, Evans, D, Adam, S, van Allen, MI, Boelman, C, Horvath, G, Van Karnebeek, CD, Eydoux, P, Huh, L, Datta, A, Selby, KA, Michoulas, A, Nelson, TN, Farrer, MJ, Demos, MB, Connolly, MB
Published in Canadian journal of neurological sciences (01.06.2016)
Published in Canadian journal of neurological sciences (01.06.2016)
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KCNQ2 mutations: genotype-phenotype association beyond epilepsy
Buerki, SE, Horwath, GA, Van Allen, MI, Datta, A, Boelman, C, Abu Sharar, Z, Sayson, B, Connolly, MB, van Karnebeek, CD, Demos, MK
Published in Canadian journal of neurological sciences (01.05.2015)
Published in Canadian journal of neurological sciences (01.05.2015)
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Unexpected death and critical illness in Prader-Willi syndrome: Report of ten individuals
Stevenson, David A., Anaya, Theresa M., Clayton-Smith, Jill, Hall, Bryan D., Van Allen, Margot I., Zori, Roberto T., Zackai, Elaine H., Frank, Gary, Clericuzio, Carol L.
Published in American journal of medical genetics. Part A (15.01.2004)
Published in American journal of medical genetics. Part A (15.01.2004)
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Abnormal embryonic development diagnosed embryoscopically in early intrauterine deaths after in vitro fertilization: A preliminary report of 23 cases
Philipp, Tom, Feichtinger, Wilfried, Van Allen, Margot I., Separovic, Evica, Reiner, Angelika, Kalousek, Dagmar K.
Published in Fertility and sterility (01.11.2004)
Published in Fertility and sterility (01.11.2004)
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Clinical variability within Brachmann-de Lange syndrome: a proposed classification system
Van Allen, M I, Filippi, G, Siegel-Bartelt, J, Yong, S L, McGillivray, B, Zuker, R M, Smith, C R, Magee, J F, Ritchie, S, Toi, A
Published in American journal of medical genetics (15.11.1993)
Published in American journal of medical genetics (15.11.1993)
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Trisomy 4 in a fetus with cyclopia and other anomalies
Van Allen, M I, Ritchie, S, Toi, A, Fong, K, Winsor, E
Published in American journal of medical genetics (15.04.1993)
Published in American journal of medical genetics (15.04.1993)
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Folate status, homocysteine metabolism, and methylene tetrahydrofolate reductase genotype in rural south african blacks with a history of pregnancy complicated by neural tube defects
Ubbink, Johan B., Christianson, Arnold, Bester, Megan J., Van Allen, Margot I., Venter, Philip A., Delport, Rhena, Blom, Henk J., Merwe, Annatjie van der, Potgieter, Hendrik, Vermaak, W.J. Hayward
Published in Metabolism, clinical and experimental (01.02.1999)
Published in Metabolism, clinical and experimental (01.02.1999)
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Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases
Bernard, L E, Peñaherrera, M S, Van Allen, M I, Wang, M S, Yong, S L, Gareis, F, Langlois, S, Robinson, W P
Published in American journal of medical genetics (26.11.1999)
Published in American journal of medical genetics (26.11.1999)
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Early sonographic evaluation for fetal growth delay and congenital malformations in pregnancies complicated by insulin-requiring diabetes
BROWN, Z. A, MILLS, J. L, METZGER, B. E, KNOPP, R. H, SIMPSON, J. L, JOVANOVIC-PETERSON, L, SCHEER, K, VAN ALLEN, M. I, AARONS, J. H, REED, G. F
Published in Diabetes care (01.05.1992)
Published in Diabetes care (01.05.1992)
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Health care concerns and guidelines for adults with Down syndrome
van Allen, M I, Fung, J, Jurenka, S B
Published in American journal of medical genetics (25.06.1999)
Published in American journal of medical genetics (25.06.1999)
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Vascular pathogenesis of limb defects. I. Radial artery anatomy in radial aplasia
Van Allen, Margot I., Hoyme, H. Eugene, Jones, Kenneth L.
Published in The Journal of pediatrics (01.11.1982)
Published in The Journal of pediatrics (01.11.1982)
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Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family
Ford, B, Rupps, R, Lirenman, D, Van Allen, M I, Farquharson, D, Lyons, C, Friedman, J M
Published in American journal of medical genetics (01.03.2001)
Published in American journal of medical genetics (01.03.2001)
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Trisomy 18 and a constitutional maternal translocation (2;18)
Teshima, I E, Winsor, E J, Van Allen, M I
Published in American journal of medical genetics (01.07.1992)
Published in American journal of medical genetics (01.07.1992)
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