Výsledky vyhledávání - Jessie H. Conta
- Zobrazuji výsledky 1 - 3 z 3
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De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot Autor Steven C. Greenway, Alexandre C. Pereira, Jennifer Lin, Steven R. DePalma, Samuel Israel, Sonia M Mesquita, Emel A. Ergul, Jessie H. Conta, Joshua M. Korn, Steven A. McCarroll, Joshua M. Gorham, Stacey B. Gabriel, David Altshuler, María de Lourdes Quintanilla-Dieck, Maria A. Artunduaga, Roland D. Eavey, Robert M. Plenge, Nancy A. Shadick, Michael E. Weinblatt, Philip L. De Jager, David A. Hafler, Roger E. Breitbart, Jonathan G. Seidman, Christine E. Seidman
Vydáno 2009Artigo -
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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant Autor David A. Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E. Veenstra‐Knol, Jessie H. Conta, Ana María Fortuna, Gabriele Gillessen‐Kaesbach, Sarah Dugan, Sara Halbach, Omar Abdul‐Rahman, Heather M Winesett, Wendy K. Chung, Marguerite B. Dalton, Petia Dimova, Teresa Mattina, Katrina Prescott, Hui Z. Zhang, Howard M. Saal, Jayne Y. Hehir‐Kwa, Marjolein H. Willemsen, Charlotte W. Ockeloen, Marjolijn C.J. Jongmans, Nathalie Van der Aa, Pinella Failla, Concetta Barone, Emanuela Avola, Alice S. Brooks, Sarina G. Kant, Erica H. Gerkes, Helen V. Firth, Katrin Õunap, Lynne M. Bird, Diane Masser‐Frye, Jennifer Friedman, Modupe A Sokunbi, Abhijit Dixit, Miranda Splitt, Mary K. Kukolich, Julie McGaughran, Bradley P. Coe, Jesús Flórez, Nael Nadif Kasri, Han G. Brunner, Elizabeth M. Thompson, Jozef Gécz, Corrado Romano, Evan E. Eichler, Bert BA de Vries
Vydáno 2015Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Copy-number variation
Genetics
Genome
Medicine
Alternative medicine
Best practice
Biochemistry
Business
Certification
Chemistry
Chromosome
Computer science
Context (archaeology)
Data sharing
Exome sequencing
Gene expression
Haploinsufficiency
Health care
Heart disease
Hypotonia
Informed consent
Intellectual disability
Internal medicine
JAG1
Knowledge management
Law
Marketing
Microdeletion syndrome