検索結果 - Susan A. Berry
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Coordinate developmental regulation of high and low molecular weight mRNAs for rat insulin-like growth factor II. 著者: Dale E. Graham, Matthew M. Rechler, Alexandra L. Brown, Rodolfo Frunzio, Joyce A. Romanus, Carmelo B. Bruni, Harvey J. Whitfield, S. Peter Nissley, Steven Seelig, Susan A. Berry
出版事項 1986Artigo -
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CBFA1 Mutation Analysis and Functional Correlation with Phenotypic Variability in Cleidocranial Dysplasia 著者: Guang Zhou, Yijun Chen, L. Zhou, Kannan Thirunavukkarasu, Jacqueline T. Hecht, David Chitayat, Bruce D. Gelb, Sinikka Pirinen, Susan A. Berry, Cheryl R. Greenberg, Gérard Karsenty, B. Lee
出版事項 1999Artigo -
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Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 著者: Elizabeth I. Pierpont, Rebekah L. Hudock, Allison M. H. Foy, Margaret Semrud‐Clikeman, Mary Ella Pierpont, Susan A. Berry, Ryan Shanley, Nathan Rubin, Katherine Sommer, Christopher L. Moertel
出版事項 2018Artigo -
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Genetic variation in C20orf54, PLCE1 and MUC1 and the risk of upper gastrointestinal cancers in Caucasian populations 著者: Andrew Palmer, Paul Lochhead, Georgina L. Hold, Charles S. Rabkin, Wong‐Ho Chow, Jolanta Lissowska, Thomas L. Vaughan, Susan A. Berry, Marilie D. Gammon, Harvey A. Risch, Emad El‐Omar
出版事項 2012Artigo -
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Increase in NF-κB Binding Affinity of the Variant C Allele of the Toll-Like Receptor 9 −1237T/C Polymorphism Is Associated with <i>Helicobacter pylori</i> -Induced Gastric Disease... 著者: Mike T. Ng, Rob van’t Hof, Julie C. Crockett, Mairi Hope, Susan A. Berry, John Thomson, Mairi H McLean, Kenneth E.L. McColl, Emad El‐Omar, Georgina L. Hold
出版事項 2009Artigo -
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Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database 著者: Loren Peña, Sandra C. Van Calcar, Joyanna Hansen, Mathew J. Edick, Cate Walsh Vockley, Nancy Leslie, Cynthia A. Cameron, Al‐Walid Mohsen, Susan A. Berry, Georgianne L. Arnold, Jerry Vockley
出版事項 2016Artigo -
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Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: Safety, pharmacokinetics and ammonia control 著者: Brendan Lee, William J. Rhead, George A. Díaz, Bruce F. Scharschmidt, Asad Mian, Oleg A. Shchelochkov, Jean‐Francois Marier, Martin Béliveau, Joseph Mauney, Klara Dickinson, Antonia Martínez, Sharron Gargosky, Masoud Mokhtarani, Susan A. Berry
出版事項 2010Artigo -
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Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes 著者: Susan A. Berry, Uta Lichter‐Konecki, George A. Díaz, Shawn E. McCandless, William J. Rhead, Wendy E. Smith, Cynthia LeMons, Sandesh C.S. Nagamani, Dion F. Coakley, Masoud Mokhtarani, Bruce F. Scharschmidt, Brendan Lee
出版事項 2014Artigo -
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Activation of the imprinted Prader-Willi syndrome locus by CRISPR-based epigenome editing 著者: Dahlia Rohm, Joshua B. Black, Sean R. McCutcheon, Alejandro Barrera, Susan A. Berry, Daniel J. Morone, Xander Nuttle, Celine E. de Esch, Derek J.C. Tai, Michael E. Talkowski, Nahid Iglesias, Charles A. Gersbach
出版事項 2025Artigo -
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Ten novel<i>FBN2</i>mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype 著者: Prateek Gupta, Elizabeth A. Putnam, Sonya G. Carmical, Ilkka Kaitila, Beat Steinmann, Anne H. Child, Cesare Danesino, Kay Metcalfe, Susan A. Berry, Emily Chen, Catherine Vincent Delorme, Meow‐Keong Thong, Lesley C. Adès, Dianna M. Milewicz
出版事項 2001Artigo -
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Health Care Supervision for Children With Williams Syndrome 著者: Colleen A. Morris, Stephen R. Braddock, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela E. Scheuerle, Joan M. Stoler
出版事項 2020Revisão
関連主題
Medicine
Biology
Internal medicine
Biochemistry
Gene
Genetics
Pediatrics
Chemistry
Amino acid
Psychiatry
Arginine
Endocrinology
Mutation
Newborn screening
Urea cycle
Cognition
Environmental health
Gastroenterology
Gene expression
Pathology
Phenotype
Phenylbutyrate
Population
Molecular biology
Neurocognitive
Pharmacology
Psychology
Receptor
Urea
Allele