Výsledky vyhledávání - David A. Stevenson
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NALCN channelopathies Autor Eric G. Bend, Yue Si, David A. Stevenson, Pınar Bayrak‐Toydemir, Tara Newcomb, Erik M. Jørgensen, Kathryn J. Swoboda
Vydáno 2016Artigo -
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Neurofibromin (Nf1) is required for skeletal muscle development Autor Nadine Kossler, Sigmar Stricker, Christian Rödelsperger, Peter N. Robinson, Johnny Kim, Carola Dietrich, Monika Osswald, Jirko Kühnisch, David A. Stevenson, Thomas Braun, Stefan Mundlos, Mateusz Kolanczyk
Vydáno 2011Artigo -
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Asfotase-α improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1 Autor Jean De La Croix Ndong, Alexander J. Makowski, Sasidhar Uppuganti, Guillaume Vignaux, Koichiro Ono, Daniel S. Perrien, Simon Joubert, S. Rubina Baglio, Donatella Granchi, David A. Stevenson, Jonathan J. Rios, Jeffry S. Nyman, Florent Elefteriou
Vydáno 2014Artigo -
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Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia Autor Viktor Lukacs, Jayanti Mathur, Rong Mao, Pinar Bayrak‐Toydemir, Melinda Procter, Stuart M. Cahalan, Helen J. Kim, Michael Bandell, Nicola Longo, Ronald W. Day, David A. Stevenson, Ardem Patapoutian, Bryan L. Krock
Vydáno 2015Artigo -
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Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice Autor Richa Sharma, Xiaohua Wu, Steven D. Rhodes, Shi Chen, Yongzheng He, Jin Yuan, Jiliang Li, Xianlin Yang, Xiaohong Li, Li Jiang, Edward T. Kim, David A. Stevenson, David Viskochil, Mingjiang Xu, Feng‐Chun Yang
Vydáno 2013Artigo -
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Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation Autor Whitney Wooderchak‐Donahue, Peter Johnson, Jamie McDonald, Francine Blei, Alejandro Berenstein, Michelle Sorscher, Jennifer Mayer, Angela E. Scheuerle, Tracey Lewis, J. Fredrik Grimmer, Gresham T. Richter, Marcie Steeves, Angela E. Lin, David A. Stevenson, Pınar Bayrak‐Toydemir
Vydáno 2018Artigo -
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BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia Autor Whitney Wooderchak‐Donahue, Jamie McDonald, Brendan O’Fallon, Paul D. Upton, Wei Li, Beth L. Roman, Sarah P. Young, Parker Plant, Gyula T. Fülöp, Carmen Langa, Nicholas W. Morrell, Luisa M. Botella, Carmelo Bernabéu, David A. Stevenson, James Runo, Pınar Bayrak‐Toydemir
Vydáno 2013Artigo
Vyhledávací nástroje:
Související témata
Medicine
Biology
Genetics
Gene
Pathology
Internal medicine
Neurofibromatosis
Phenotype
Bioinformatics
Mutation
Pediatrics
Chromosome
Computer science
Endocrinology
Exome sequencing
Neurofibromin 1
Anatomy
Cancer research
Disease
Genetic testing
Genome
KRAS
Missense mutation
Radiology
Arteriovenous malformation
Biochemistry
Cancer
Cell biology
Cohort
Colorectal cancer