نتائج البحث - Hannah W. Moore
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MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome–like Behaviors in Mice حسب Adam J. Harrington, Catherine Bridges, Stefano Berto, Kayla Blankenship, Jennifer Y. Cho, Ahlem Assali, Benjamin M. Siemsen, Hannah W. Moore, Tsvetkov Ea, Acadia Thielking, Geneviève Konopka, David B. Everman, Michael D. Scofield, Steven A. Skinner, Christopher W. Cowan
منشور في 2020Artigo -
2
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders حسب Dominyka Batkovskyte, F. Ellis McKenzie, Fulya Taylan, Pelin Özlem Şimşek‐Kiper, Sarah M. Nikkel, Hirofumi Ohashi, Roger E. Stevenson, Thuong Ha, Denise P. Cavalcanti, Hiroyuki Miyahara, Steven A. Skinner, Miguel Ángel Aguirre, Zühal Akçören, Gülen Eda Ütine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjö, Koray Boduroğlu, Hannah W. Moore, Raymond J. Louie, Peer Arts, Allie Merrihew, Milena Babic, Matilda R. Jackson, Nikos Papadogiannakis, Anna Lindstrand, Ann Nordgren, Christopher Barnett, Hamish S. Scott, Andrei S. Chagin, Gen Nishimura, Giedre Grigelioniené
منشور في 2020Artigo -
3
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency حسب David B. Beck, Ana Petracovici, Chongsheng He, Hannah W. Moore, Raymond J. Louie, Muhammad Ansar, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Regie Lyn P. Santos‐Cortez, Eloise J. Prijoles, Renee Bend, Boris Keren, Cyril Mignot, Marie-Christine Nougues, Katrin Õunap, Tiia Reimand, Sander Pajusalu, Muhammad Zahid, Muhammad Arif Nadeem Saqib, Julien Buratti, Eleanor G. Seaby, Kirsty McWalter, Aida Telegrafi, Dustin Baldridge, Marwan Shinawi, Suzanne M. Leal, G. Bradley Schaefer, Roger E. Stevenson, Siddharth Banka, Roberto Bonasio, Jill A. Fahrner
منشور في 2020Artigo -
4
Lessons learned from 40 novel <i>PIGA</i> patients and a review of the literature حسب Allan Bayat, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch, Bert Callewaert, Patrick Calvas, Berten Ceulemans, Nicolas Chassaing, Christel Depienne, Milda Endzinienė, Carlos R. Ferreira, Carolina Fischinger Moura de Souza, Cécile Freihuber, Shiva Ganesan, Svetlana Gataullina, Renzo Guerrini, Anne‐Marie Guerrot, Lars Hestbjerg Hansen, Aleksandra Jezela‐Stanek, C. Karsenty, Anneke Kievit, R. Frank Kooy, Christian Korff, Johanne Kragh Hansen, Martin J. Larsen, Valérie Layet, Gaëtan Lesca, Kim L. McBride, Marije Meuwissen, Cyril Mignot, Martino Montomoli, Hannah W. Moore, Sophie Naudion, Caroline Nava, Marie‐Christine Nouguès, Elena Parrini, Matthew Pastore, Jurgen Schelhaas, Steven A. Skinner, Krzysztof Szczałuba, Ashley Thomas, Mads Thomassen, Lisbeth Tranebjærg, Marjon van Slegtenhorst, Lynne A. Wolfe, Dennis Lal, Elena Gardella, Lilian Bomme Ousager, Tobias Brünger, Ingo Helbig, Peter Krawitz, Rikke S. Møller
منشور في 2020Revisão
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Genetics
Gene expression
Medicine
Brachydactyly
Central nervous system
Compound heterozygosity
DNA
DNA demethylation
DNA methylation
Demethylation
Dysplasia
Forebrain
Haploinsufficiency
MEF2C
Macrocephaly
Mendelian inheritance
Mutation
Neuroscience
Pathology
Pediatrics
Phenotype
Psychoanalysis
Psychology
Sanger sequencing
Short stature