Ngā hua rapu - Rolf W. Stottmann

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  1. 1
    The BMP Antagonists Chordin and Noggin Have Essential but Redundant Roles in Mouse Mandibular Outgrowth

    The BMP Antagonists Chordin and Noggin Have Essential but Redundant Roles in Mouse Mandibular Outgrowth mā Rolf W. Stottmann, Ryan M. Anderson, John Klingensmith

    I whakaputaina 2001
    Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium

    BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium mā Rolf W. Stottmann, Murim Choi, Yuji Mishina, Erik N. Meyers, John Klingensmith

    I whakaputaina 2004
    Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain

    Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain mā Rolf W. Stottmann, Pamela V. Tran, Annick Turbé-Doan, David R. Beier

    I whakaputaina 2009
    Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    Differential requirements of tubulin genes in mammalian forebrain development

    Differential requirements of tubulin genes in mammalian forebrain development mā Elizabeth Bittermann, Zakia Abdelhamed, Ryan P. Liegel, Chelsea Menke, Andrew E. Timms, David R. Beier, Rolf W. Stottmann

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    A mutation in <i>Ccdc39</i> causes neonatal hydrocephalus with abnormal motile cilia development in mice

    A mutation in <i>Ccdc39</i> causes neonatal hydrocephalus with abnormal motile cilia development in mice mā Zakia Abdelhamed, Shawn M. Vuong, Lauren M. Hill, Crystal Shula, Andrew E. Timms, David R. Beier, Kenneth Campbell, Francesco T. Mangano, Rolf W. Stottmann, June Goto

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence

    Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence mā Marshall Lukacs, Jonathan Gilley, Yi Zhu, Giuseppe Orsomando, Carlo Alberto Angeletti, Jiaqi Liu, Xiuna Yang, Joun Park, Robert J. Hopkin, Michael P. Coleman, R. Grace Zhai, Rolf W. Stottmann

    I whakaputaina 2019
    Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia

    THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia mā Pamela V. Tran, Courtney J. Haycraft, Tatiana Y. Besschetnova, Annick Turbé-Doan, Rolf W. Stottmann, Bruce J. Herron, Allyson L. Chesebro, Haiyan Qiu, Paul Scherz, Jagesh V. Shah, Bradley K. Yoder, David R. Beier

    I whakaputaina 2008
    Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly

    Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly mā Andrew DiStasio, Ashley M. Driver, Kristen L. Sund, Milene Donlin, Ranjith M. Muraleedharan, Shabnam Pooya, Beth M. Kline‐Fath, Kenneth M. Kaufman, Cynthia A. Prows, Elizabeth K. Schorry, Biplab Dasgupta, Rolf W. Stottmann

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice

    Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice mā Zhuo Li, Yanyan Peng, Robert B. Hufnagel, Yueh‐Chiang Hu, Chuntao Zhao, Luis F. Queme, Zaza Khuchua, Ashley M. Driver, Fei Dong, Q. Richard Lu, Diana M. Lindquist, Michael P. Jankowski, Rolf W. Stottmann, Winston W.‐Y. Kao, Taosheng Huang

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  10. 10
    Mutation mapping and identification by whole-genome sequencing

    Mutation mapping and identification by whole-genome sequencing mā Ignaty Leshchiner, Kristen Alexa, Peter B. Kelsey, Ivan Adzhubei, Christina Austin‐Tse, Jeffrey D. Cooney, Heidi Anderson, Matthew J. King, Rolf W. Stottmann, Maija Garnaas, Seungshin Ha, Iain A. Drummond, Barry H. Paw, Trista E. North, David R. Beier, Wolfram Goessling, Shamil Sunyaev

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  11. 11
    A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

    A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development mā Andrea Wilderman, Eva D’haene, Machteld Baetens, Tara N. Yankee, Emma Wentworth Winchester, Nicole Glidden, Ellen Roets, Jo Van Dorpe, Sandra Janssens, Danny E. Miller, Miranda Galey, Kari M. Brown, Rolf W. Stottmann, Sarah Vergult, K. Nicole Weaver, Samantha A. Brugmann, Timothy C. Cox, Justin Cotney

    I whakaputaina 2024
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature”

    Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature” mā Von Hardenberg, Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee, Li Zhang, Waheed Awotoye, Tamir Diamond, Jessica I. Gold, Catherine Gooch, Jephthah Gowans, Hákon Hákonarson, Anne Hing, Kathleen M. Loomes, Nicole Martin, Thanuja Selvanayagam, Mary L. Marazita, Tarja Mononen, David A. Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W. Scherer, Nara Sobriera, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C. Murray, Andrew C. Lidral, Azeez Butali, Michael F. Buckley, Tony Roscioli, David A. Koolen, Laurie H. Seaver, Cynthia A. Prows, Rolf W. Stottmann, Timothy C. Cox

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Errata/Corrigenda
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  13. 13
    POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

    POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies mā Kelly Smallwood, Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P Adam, Amber Begtrup, Débora Romeo Bertola, Laurie Demmer, Erin Demo, Orrin Devinsky, Emily R. Gallagher, María J. Guillen Sacoto, Robert Jech, Boris Keren, Jennifer Kussmann, Roger L. Ladda, Lisa A. Lansdon, Sebastian Lunke, Anne H. Mardy, Kirsty McWalters, Richard Person, Laura Raiti, Noriko Saitoh, Carol Saunders, Rhonda E. Schnur, Matěj Škorvánek, Susan L. Sell, Anne Slavotinek, Bonnie Sullivan, Zornitza Stark, Joseph D. Symonds, Tara Wenger, Sacha Weber, Sandra Whalen, Susan M. White, Juliane Winkelmann, Michael Zech, Shimriet Zeidler, Kazuhiro Maeshima, Rolf W. Stottmann, Paul A. Trainor, K. Nicole Weaver

    I whakaputaina 2023
    Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis mā Pamela Magini, Daphne J. Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H. Lequin, Marjolein H. G. Dremmen, Marie‐Claire Y. de Wit, Mariasavina Severino, Maria Teresa Divizia, Pasquale Striano, Natalia Ordonez‐Herrera, Amal Alhashem, Ahmed Fares, Malak Al Ghamdi, Arndt Rolfs, Peter Bauer, Jeroen Demmers, Frans W. Verheijen, Martina Wilke, Marjon van Slegtenhorst, Peter J. van der Spek, Marco Seri, Anna Jansen, Rolf W. Stottmann, Robert B. Hufnagel, Robert J. Hopkin, Deema Aljeaid, Wojciech Wiszniewski, Paweł Gawliński, Milena Laure‐Kamionowska, Fowzan S. Alkuraya, Hanah Akleh, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Maha S. Zaki, Nicola Brunetti‐Pierri, Gerarda Cappuccio, Bella Davidov, Lina Basel‐Vanagaite, Lily Bazak, Noa Ruhrman‐Shahar, Aida M. Bertoli‐Avella, Ghayda Mirzaa, William B. Dobyns, Tommaso Pippucci, Maarten Fornerod, Grazia M.S. Mancini

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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