Search Results - "Ravn, K."

Scalable carbon dioxide electroreduction coupled to carbonylation chemistry by Jensen, Mikkel T., Rønne, Magnus H., Ravn, Anne K., Juhl, René W., Nielsen, Dennis U., Hu, Xin-Ming, Pedersen, Steen U., Daasbjerg, Kim, Skrydstrup, Troels

“…Significant efforts have been devoted over the last few years to develop efficient molecular electrocatalysts for the electrochemical reduction of carbon…”
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Brain derived neurotrophic factor (BDNF) and autism spectrum disorders (ASD) in childhood by Bryn, V, Halvorsen, B, Ueland, T, Isaksen, J, Kolkova, K, Ravn, K, Skjeldal, O.H

“…Abstract Background Neurotrophic factors are essential regulators of neuronal maturation including synaptic synthesis. Among those, Brain derived neurotrophic…”
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P16.02: Detecting aneuploidies and subchromosomal abnormalities by use of circulating fetal trophoblast cells in maternal blood by Petersen, O.B., Hatt, L., Singh, R., Ravn, K., Schelde, P., Vestergaard, E., Christensen, R., Vogel, I., Uldbjerg, N.

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Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair by Ravn, K, Lindquist, SG, Nielsen, K, Dahm, TL, Tümer, Z

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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome by Schönewolf-Greulich, B., Tejada, M.-I., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum-Nielsen, K., Pfundt, R., Ravn, K., Maortua, H., Gener, B., Martínez-Bouzas, C., Piton, A., Rouleau, G., Clayton-Smith, J., Kleefstra, T., Bisgaard, A.-M., Tümer, Z.

“…Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also…”
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Regioselective Hydroalkylation of Vinylarenes by Cooperative Cu and Ni Catalysis by Ravn, Anne K., Johansen, Martin B., Skrydstrup, Troels

“…Disclosed here is a dual copper and nickel catalytic system with a silyl hydride source for promoting the linear selective hydroalkylation of vinylarenes. This…”
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X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome by Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjaergaard, S., Tümer, Z., Kleefstra, T.

“…Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features…”
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Controlled Release of Reactive Gases: A Tale of Taming Carbon Monoxide by Ravn, Anne K., Johansen, Martin B., Skrydstrup, Troels

“…This Personal Account describes the development of air‐stable and solid precursors for on‐demand release of carbon monoxide. In combination with the…”
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Carbon Isotope Labeling Strategy for β‑Amino Acid Derivatives via Carbonylation of Azanickellacycles by Ravn, Anne K, Vilstrup, Maria B. T, Noerby, Peter, Nielsen, Dennis U, Daasbjerg, Kim, Skrydstrup, Troels

“…A series of 4-membered azametallacycles have been prepared by the oxidative addition of Ni(0) with aziridines. Stoichiometric 13C-labeled carbon monoxide could…”
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Low bone formation phenotype in patients with Rett syndrome by Roende, G, Ravn, K, Fuglsang, K, Andersen, H, Nielsen, J.B, Brøndum-Nielsen, K, Jensen, J.-E.B

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Stereodivergent, Kinetically Controlled Isomerization of Terminal Alkenes via Nickel Catalysis by Rubel, Camille Z., Ravn, Anne K., Ho, Hang Chi, Yang, Shenghua, Li, Zi‐Qi, Engle, Keary M., Vantourout, Julien C.

“…Because internal alkenes are more challenging synthetic targets than terminal alkenes, metal‐catalyzed olefin mono‐transposition (i.e., positional…”
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Diversification of Pharmaceutical Manufacturing Processes: Taking the Plunge into the Non-PGM Catalyst Pool by Zhao, Hui, Ravn, Anne K., Haibach, Michael C., Engle, Keary M., Johansson Seechurn, Carin C. C.

“…Recent global events have led to the cost of platinum group metals (PGMs) reaching unprecedented heights. Many chemical companies are therefore starting to…”
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A thorough MECP2 mutation analysis by Ravn, K, Nielsen, JB

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Identification of a novel locus for a USH3 like syndrome combined with congenital cataract by Dad, S, Østergaard, E, Thykjær, T, Albrectsen, A, Ravn, K, Rosenberg, T, Møller, LB

“…Dad S, Østergaard E, Thykjær T, Albrectsen A, Ravn K, Rosenberg T, Møller LB. Identification of a novel locus for a USH3 like syndrome combined with congenital…”
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No correlation between phenotype and genotype in boys with a truncating MECP2 mutation by Ravn, K, Nielsen, J B, Uldall, P, Hansen, F J, Schwartz, M

“…Rett syndrome (RS, MIM 312750) is an X linked dominant neurodevelopmental disorder, which has been considered to affect girls only. 1 Males were thought to be…”
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Regioselective Hydroalkylation of Vinylarenes by Cooperative Cu and Ni Catalysis by Ravn, Anne K., Johansen, Martin B., Skrydstrup, Troels

“…Disclosed here is a dual copper and nickel catalytic system with a silyl hydride source for promoting the linear selective hydroalkylation of vinylarenes. This…”
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Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability - Further Delineation of the Phenotype and Expression Studies by Zink, A.M., Wohlleber, E., Engels, H., Rødningen, O.K., Ravn, K., Heilmann, S., Rehnitz, J., Katzorke, N., Kraus, C., Blichfeldt, S., Hoffmann, P., Reutter, H., Brockschmidt, F.F., Kreiß-Nachtsheim, M., Vogt, P.H., Prescott, T.E., Tümer, Z., Lee, J.A.

“…Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often…”
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Multiple mtDNA deletions with features of MNGIE by VISSING, J, RAVN, K, DANIELSEN, E. R, DUNØ, M, WIBRAND, F, WEVERS, R. A, SCHWARTZ, M

“…Two sisters developed gastrointestinal malabsorption with pain and unsteady gait due to polyneuropathy at age 15. Both had ophthalmoplegia, neurogenic EMG, and…”
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Stereodivergent, Kinetically Controlled Isomerization of Terminal Alkenes via Nickel Catalysis by Rubel, Camille Z., Ravn, Anne K., Ho, Hang Chi, Yang, Shenghua, Li, Zi‐Qi, Engle, Keary M., Vantourout, Julien C.

“…Because internal alkenes are more challenging synthetic targets than terminal alkenes, metal‐catalyzed olefin mono‐transposition (i.e., positional…”
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Rapid Access to Carbon-Isotope-Labeled Alkyl and Aryl Carboxylates Applying Palladacarboxylates by Ton, Stephanie J., Ravn, Anne K., Hoffmann, Daniel Vrønning, Day, Craig S., Kingston, Lee, Elmore, Charles S., Skrydstrup, Troels

“…Herein, we report a strategy for the formation of isotopically labeled carboxylic esters from boronic esters/acids using a readily accessible palladium…”
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