Kết quả tìm kiếm - Kate Shane-Carson
- Đang hiển thị 1 - 4 kết quả của 4
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1
Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11 Bằng Christian R. Marshall, Edwin J. Young, Ariel M. Pani, Mary-Louise Freckmann, Yves Lacassie, Cédric Howald, Kristi K. Fitzgerald, Maarit Peippo, Colleen A. Morris, Kate Shane-Carson, Manuela Priolo, Masafumi Morimoto, Ikuko Kondo, Esra Manguoğlu, Sibel Berker-Karaüzüm, Patrick Edery, Holly H. Hobart, Carolyn Β. Mervis, Orsetta Zuffardi, Alexandre Reymond, Paige Kaplan, May Tassabehji, Ronald G. Gregg, Stephen W. Scherer, Lucy R. Osborne
Được phát hành 2008Artigo -
2
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region Bằng Justine Coppinger, Donna M. McDonald‐McGinn, E. Zackai, Kate Shane-Carson, Joan Atkin, Alexander Asamoah, R. Leland, David D. Weaver, Susan Lansky-Shafer, Karen Schmidt, Heidi M. Feldman, William Cohen, Judith Phalin, Berkley R. Powell, B. C. Ballif, Aaron Theisen, Elizabeth A. Geiger, Chad R. Haldeman‐Englert, Tamim H. Shaikh, Sulagna C. Saitta, B.A. Bejjani, L.G. Shaffer
Được phát hành 2009Artigo -
3
Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities Bằng Blake C. Ballif, Aaron Theisen, Jill A. Rosenfeld, Ryan N. Traylor, Julie M. Gastier‐Foster, Devon Lamb Thrush, Caroline Astbury, Dennis Bartholomew, Kim L. McBride, Robert E. Pyatt, Kate Shane-Carson, Wendy E. Smith, Valerie Banks, William Gallentine, Pamela Brock, M. Katharine Rudd, Margaret P Adam, Julia A. Keene, John A. Phillips, Jean P. Pfotenhauer, Gordon C. Gowans, Paweł Stankiewicz, Bassem A. Bejjani, Lisa G. Shaffer
Được phát hành 2010Artigo -
4
Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency Bằng Nils Krone, Nicole Reisch, Jan Idkowiak, Vivek Dhir, Hannah E Ivison, Beverly Hughes, Ian T. Rose, Donna O’Neil, Raymon Vijzelaar, Matthew J. Smith, Fiona MacDonald, Trevor Cole, Nicolai Adolphs, John Barton, Edward Blair, Stephen R. Braddock, Felicity Collins, Deborah Cragun, Mehul Dattani, Ruth Day, Shelley Dougan, Miriam Feist, Michael Gottschalk, John W. Gregory, Michaela Haim, Rachel Harrison, Ann Haskins Olney, Berthold P. Hauffa, Peter C. Hindmarsh, Robert J. Hopkin, Petr Jira, Marlies Kempers, Michiel N. Kerstens, Mohamed M. Khalifa, Birgit Köhler, Dominique Maiter, Shelly Nielsen, Stephen O’Riordan, Christian Roth, Kate Shane-Carson, Martin Silink, Nike Stikkelbroeck, Elizabeth Sweeney, Maria Szarras‐Czapnik, John Waterson, Lori Williamson, Michaela F. Hartmann, Norman Taylor, Stefan A. Wudy, E Małunowicz, Cedric Shackleton, Wiebke Arlt
Được phát hành 2011Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Gene
Genetics
Medicine
Chromosome
Gene duplication
Microcephaly
Phenotype
21-Hydroxylase
Adrenal insufficiency
Anatomy
Breakpoint
Clinical significance
Comparative genomic hybridization
Compound heterozygosity
Congenital adrenal hyperplasia
DiGeorge syndrome
Endocrinology
Exon
Gene expression
Gene family
Genetic recombination
Genome
Genotype
Intellectual disability
Internal medicine
Macrocephaly
Microarray
Microdeletion syndrome
Missense mutation