Výsledky vyhledávání - Daryl A. Scott
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1p36 deletion syndrome: an update Autor Daryl A. Scott, Valerie K. Jordan, Hitsha Zaveri
Vydáno 2015Revisão -
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Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia Autor Daryl A. Scott, Merel Klaassens, Ashley M. Holder, Kevin P. Lally, Caraciolo J. Fernandes, Robert‐Jan Galjaard, Dick Tibboel, Annelies de Klein, Brendan Lee
Vydáno 2007Artigo -
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Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4) Autor Daryl A. Scott, R Wang, Trisha Kreman, Mike Andrews, Jackie McDonald, Jeffrey R. Bishop, Richard J. Smith, Lawrence P. Karniski, Val C. Sheffield
Vydáno 2000Artigo -
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American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss Autor Raye Lynn Alford, Kathleen S. Arnos, Michelle Fox, Jerry Lin, Christina G.S. Palmer, Arti Pandya, Heidi L. Rehm, Nathaniel H. Robin, Daryl A. Scott, Christine Yoshinaga‐Itano
Vydáno 2014Artigo -
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Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint Autor Roxanne Y. Walder, Hadar Shalev, Theresa Brennan, Rivka Carmi, Khalil Elbedour, Daryl A. Scott, André Hanauer, Allyn L. Mark, S. Patil, Edwin M. Stone, Val C. Sheffield
Vydáno 1997Artigo -
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Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes Autor Tara N. Yankee, Sungryong Oh, Emma Wentworth Winchester, Andrea Wilderman, Kelsey Robinson, Tia Gordon, Jill A. Rosenfeld, Jennifer VanOudenhove, Daryl A. Scott, Elizabeth J. Leslie, Justin Cotney
Vydáno 2023Artigo -
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Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia Autor Margaret Wat, Oleg A. Shchelochkov, Ashley M. Holder, Amy M. Breman, Aditi I Dagli, Carlos A. Bacino, Fernando Scaglia, Roberto T. Zori, Sau Wai Cheung, Daryl A. Scott, Sung‐Hae Kang
Vydáno 2009Artigo -
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Review of the phenotypic spectrum associated with haploinsufficiency of <i>MYRF</i> Autor Linda Rossetti, Kevin E. Glinton, Bo Yuan, Pengfei Liu, Nishitha R. Pillai, Elizabeth Mizerik, Pilar Magoulas, Jill A. Rosenfeld, Lefkothea Karaviti, V. Reid Sutton, Seema R. Lalani, Daryl A. Scott
Vydáno 2019Revisão -
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An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions Autor Bum‐Joon Kim, Hitisha P. Zaveri, Oleg A. Shchelochkov, Zhiyin Yu, Andrés Hernández, Michelle L. Seymour, John S. Oghalai, Fred A. Pereira, David W. Stockton, Monica J. Justice, Brendan Lee, Daryl A. Scott
Vydáno 2013Artigo -
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Performance of cochlear implant recipients with <i>GJB2</i>‐related deafness Autor Glenn E. Green, Daryl A. Scott, J. Matthew McDonald, Holly F. B. Teagle, Bruce J. Tomblin, Linda Spencer, George Woodworth, John F. Knutson, Bruce J. Gantz, Val C. Sheffield, Richard J. Smith
Vydáno 2002Artigo -
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Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36 Autor Hitisha P. Zaveri, T. Beck, Andrés Hernández, Katharine E. Shelly, Tara Montgomery, Arie van Haeringen, Britt-Marie Anderlid, Chirag Patel, Himanshu Goel, Gunnar Houge, Bernice E. Morrow, Sau Wai Cheung, Seema R. Lalani, Daryl A. Scott
Vydáno 2014Artigo -
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Severe mental retardation, seizures, and hypotonia due to deletions of <i>MEF2C</i> Autor Beata Nowakowska, Ewa Obersztyn, Krystyna Szymańska, Monika Bekiesińska‐Figatowska, Zhilian Xia, Christian B. Ricks, Ewa Bocian, David W. Stockton, Krzysztof Szczałuba, Magdalena Nawara, Ankita Patel, Daryl A. Scott, Sau Wai Cheung, Timothy P. Bohan, Paweł Stankiewicz
Vydáno 2010Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Phenotype
Medicine
Internal medicine
Haploinsufficiency
Copy-number variation
Genome
Neuroscience
Bioinformatics
Intellectual disability
Chromosome
Exome sequencing
Missense mutation
Pathology
Allele
Autism
Congenital diaphragmatic hernia
Fetus
Pregnancy
Psychology
Surgery
Comparative genomic hybridization
Diaphragmatic hernia
Gene expression
Genotype
Hernia
Hypotonia
Psychiatry