Хайлтын үр дүнгүүд - Maria A. Artunduaga
- 3-н 1 - 3 үр дүнгүүдийг харуулж байна
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<scp><i>HOXA</i></scp><i>2</i>Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss -н Kerry K. Brown, Lucas Moura Viana, Cecilia C. Helwig, Maria A. Artunduaga, Lourdes Quintanilla‐Dieck, Patricia Jarrin, Gabriel Osorno, Barbara McDonough, Steven R. DePalma, Roland D. Eavey, Jonathan G. Seidman, Christine E. Seidman
Хэвлэсэн 2013Artigo -
2
An ancient founder mutation located between<i>ROBO1</i>and<i>ROBO2</i>is responsible for increased microtia risk in Amerindigenous populations -н Daniel Quiat, Seong Won Kim, Qi Zhang, Sarah U. Morton, Alexandre C. Pereira, Steven R. DePalma, Jon A. L. Willcox, Barbara McDonough, Daniel M. DeLaughter, Joshua M. Gorham, Justin J. Curran, Melissa Tumblin, Yamileth Nicolau, Maria A. Artunduaga, Lourdes Quintanilla‐Dieck, Gabriel Osorno, Luís Serrano, Usama S. Hamdan, Roland D. Eavey, Christine E. Seidman, Jonathan G. Seidman
Хэвлэсэн 2022Artigo -
3
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot -н 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
Хэвлэсэн 2009Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Biology
Gene
Genetics
Anatomy
Medicine
Microtia
Allele
Audiology
Chromosome
Copy-number variation
Craniofacial
Embryo
Exome
Exome sequencing
Gene expression
Genome
Haploinsufficiency
Hearing loss
Heart disease
Internal medicine
JAG1
Mutation
Neural crest
Nonsense
Notch signaling pathway
Phenotype
Promoter
TBX1
Tetralogy of Fallot