Rezultati - Kwame Anyane‐Yeboa

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  1. 1
    Networks of Attention in Children With the 22q11 Deletion Syndrome

    Networks of Attention in Children With the 22q11 Deletion Syndrome od Christina Sobin, Karen Kiley‐Brabeck, Sarah Daniels, Maude L. Blundell, Kwame Anyane‐Yeboa, Maria Karayiorgou

    Izdano 2004
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  2. 2
    Coding Mutations in p57 Are Present in Some Cases of Beckwith-Wiedemann Syndrome but Are Rare or Absent in Wilms Tumors

    Coding Mutations in p57 Are Present in Some Cases of Beckwith-Wiedemann Syndrome but Are Rare or Absent in Wilms Tumors od Denise O’Keefe, Diem Dao, Long Zhao, Rhonda Sanderson, Dorothy Warburton, Lawrence M. Weiss, Kwame Anyane‐Yeboa, Benjamin Tycko

    Izdano 1997
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  3. 3
    NEUROPSYCHOLOGICAL CHARACTERISTICS OF CHILDREN WITH THE 22Q11 DELETION SYNDROME: A DESCRIPTIVE ANALYSIS

    NEUROPSYCHOLOGICAL CHARACTERISTICS OF CHILDREN WITH THE 22Q11 DELETION SYNDROME: A DESCRIPTIVE ANALYSIS od Christina Sobin, Karen Kiley‐Brabeck, Sarah Daniels, Jananne Khuri, Lisa Taylor, Maude L. Blundell, Kwame Anyane‐Yeboa, Maria Karayiorgou

    Izdano 2005
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  4. 4
    Duplication of the ZIC2 gene is not associated with holoprosencephaly

    Duplication of the ZIC2 gene is not associated with holoprosencephaly od Jobanputra, Vaidehi, Burke, Alanna, Kwame, Anyane-Yeboa, Shanmugham, Anita, Shirazi, Maryam, Brown, Stephen, Warburton, Peter E., Levy, Brynn, Warburton, Dorothy

    Izdano 2011
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  5. 5
    The usefulness of whole-exome sequencing in routine clinical practice

    The usefulness of whole-exome sequencing in routine clinical practice od Alejandro Iglesias, Kwame Anyane‐Yeboa, Julia Wynn, Ashley Wilson, Megan Truitt Cho, Edwin R. Guzman, Rebecca Sisson, Claire Egan, Wendy K. Chung

    Izdano 2014
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  6. 6
    A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

    A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly od Paul Kruszka, Seth Berger, Karin Weiss, Joshua L. Everson, Ariel F. Martinez, Sung‐Kook Hong, Kwame Anyane‐Yeboa, Robert J. Lipinski, Maximilian Muenke

    Izdano 2019
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  7. 7
    Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy

    Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy od John M. Graham, Kwame Anyane‐Yeboa, Anja Raams, Esther Appeldoorn, Wim J. Kleijer, Victor H. Garritsen, David B. Busch, Terri G. Edersheim, Nicolaas G.J. Jaspers

    Izdano 2001
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  8. 8
    A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder

    A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder od Yuexia Wang, Uta Lichter‐Konecki, Kwame Anyane‐Yeboa, Jessica Shaw, Jonathan T. Lu, Cecilia Östlund, Ji‐Yeon Shin, Lorraine N. Clark, Gregg G. Gundersen, Péter L. Nagy, Howard J. Worman

    Izdano 2016
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  9. 9
    De novo mutations in <i>PURA</i> are associated with hypotonia and developmental delay

    De novo mutations in <i>PURA</i> are associated with hypotonia and developmental delay od Akemi Tanaka, Renkui Bai, Megan T. Cho, Kwame Anyane‐Yeboa, Priyanka Ahimaz, Ashley Wilson, Fran Kendall, Beverly N. Hay, Timothy J. M. Moss, Monica Nardini, Mislen Bauer, Kyle Retterer, Jane Juusola, Wendy K. Chung

    Izdano 2015
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  10. 10
    Characterization of the chromosome 1q41q42.12 region, and the candidate gene <i>DISP1</i>, in patients with CDH

    Characterization of the chromosome 1q41q42.12 region, and the candidate gene <i>DISP1</i>, in patients with CDH od Sibel Kantarci, Kate G. Ackerman, Meaghan Russell, Mauro Longoni, Carrie Sougnez, Kristin Noonan, Eli Hatchwell, Xiaoyun Zhang, Rafael Pieretti Vanmarcke, Kwame Anyane‐Yeboa, Paul W. Dickman, Jay M. Wilson, Patricia K. Donahoe, Barbara R. Pober

    Izdano 2010
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  11. 11
    Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome Patients

    Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome Patients od Christine Carlson, Howard I. Sirotkin, Raj K. Pandita, Rosalie Goldberg, Judith M. McKie, R Wadey, S R Patanjali, S M Weissman, Kwame Anyane‐Yeboa, Dorothy Warburton, Peter Scambler, Robert J. Shprintzen, Raju Kucherlapati, Bernice E. Morrow

    Izdano 1997
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  12. 12
    The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

    The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left hear... od Dorothy Warburton, Michael Ronemus, Jennie Kline, Vaidehi Jobanputra, Ismee Williams, Kwame Anyane‐Yeboa, Wendy K. Chung, Lan Yu, Nancy Wong, Danielle Awad, Chih‐Yu Yu, Anthony Leotta, Jude Kendall, Boris Yamrom, Yoon-ha Lee, Michael Wigler, Dan Levy

    Izdano 2013
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  13. 13
    Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

    Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact od Julia Wynn, Ruth Ottman, J. Duong, Ashley Wilson, Priyanka Ahimaz, Josue Martinez, Rachel Rabin, EFREM ROSEN, Rachel Webster, C. Au, Megan T. Cho, Claire Egan, E Guzmán, Michelle Primiano, Jessica Shaw, Rebecca Sisson, Robert Klitzman, Paul S. Appelbaum, Uta Lichter‐Konecki, Kwame Anyane‐Yeboa, Alejandro Iglesias, Wendy K. Chung

    Izdano 2017
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  14. 14
    Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth

    Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth od Gina M. DeStefano, Mazen Kurban, Kwame Anyane‐Yeboa, Claudia Dall’Armi, Gilbert Di Paolo, Heather Feenstra, Nanette B. Silverberg, Luis Rohena, Larissa Dorina López-Cepeda, Vaidehi Jobanputra, Katherine A. Fantauzzo, Maija Kiuru, Marija Tadin‐Strapps, Antonio Sobrino, Anna Vitebsky, Dorothy Warburton, Brynn Levy, Julio C. Salas‐Alanís, Angela M. Christiano

    Izdano 2014
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  15. 15
    Nine novel mutations inNR0B1 (DAX1) causing adrenal hypoplasia congenita

    Nine novel mutations inNR0B1 (DAX1) causing adrenal hypoplasia congenita od Yao-Hua Zhang, Bing-Ling Huang, Kwame Anyane‐Yeboa, Julienne A.R. Carvalho, Robert D. Clemons, T Cole, Bonald C. Figueiredo, Mark Lubinsky, Daniel L. Metzger, Roberto Quadrelli, David R. Repaske, Soraya Reyno, Laurie H. Seaver, Alicia Vaglio, Guy Van Vliet, Linda L. McCabe, Edward R.B. McCabe, James K. Phelan

    Izdano 2001
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  16. 16
    Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology

    Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology od Siddharth Banka, Abigail Bennington, Martin J. Baker, Ellen Rijckmans, Giuliana Clemente, Nurhuda Mohamad Ansor, Hilary Sito, P. Phaniram Prasad, Kwame Anyane‐Yeboa, Lauren Badalato, Boyan Dimitrov, David Fitzpatrick, Anna Hurst, Anna Jansen, Melissa Kelly, Ian D. Krantz, Claudine Rieubland, Meredith J. Ross, Natasha L. Rudy, Javier Sanz, Katrien Stouffs, Zhuo Luan Xu, Angeliki Malliri, Marcelo G. Kazanietz, Tom H. Millard

    Izdano 2022
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  17. 17
    Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

    Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders od Halie May, Jae‐Hoon Jeong, Anya Revah‐Politi, Julie S. Cohen, Anna Chassevent, Júlia Baptista, Evan H. Baugh, Louise Bier, Armand Bottani, Maria resa Te Carminho A. Rodrigues, Charles Conlon, Joël Fluss, Michel Guipponi, Chong Ae Kim, Naomichi Matsumoto, Richard Person, Michelle Primiano, Julia Rankin, Marwan Shinawi, Constance Smith‐Hicks, Aida Telegrafi, Samantha Toy, Yuri Uchiyama, Vimla S. Aggarwal, David B. Goldstein, Katherine W. Roche, Kwame Anyane‐Yeboa

    Izdano 2021
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  18. 18
    Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

    Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction od Katrin Koehler, Meera Malik, Saqib Mahmood, Sebastian Gießelmann, Christian Beetz, J. Christopher Hennings, Antje K. Huebner, Ammi Grahn, Janine Reunert, Gudrun Nürnberg, Hölger Thiele, Janine Altmüller, Peter Nürnberg, Rizwan Mumtaz, Dusica Babovic‐Vuksanovic, Lina Basel‐Vanagaite, Guntram Borck, Jürgen Brämswig, R. Mühlenberg, Pierre Sarda, Alma Sikiric, Kwame Anyane‐Yeboa, Avraham Zeharia, Arsalan Ahmad, Christine Coubes, Yoshinao Wada, Thorsten Marquardt, Dieter Vanderschaeghe, Emile Van Schaftingen, Ingo Kurth, Angela Huebner, Christian A. Hübner

    Izdano 2013
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  19. 19
    DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model

    DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model od Yao-Hua Zhang, Weiwen Guo, Richard Wagner, Bing-Ling Huang, Linda L. McCabe, Éric Vilain, Thomas P. Burris, Kwame Anyane‐Yeboa, Arthur H.M. Burghes, David Chitayat, Albert E. Chudley, Myron Genel, Joseph M. Gertner, Georgeanna J. Klingensmith, Steven N. Levine, Jon M. Nakamoto, Maria I. New, Roberta A Pagon, John Pappas, Charmian A. Quigley, Ira M. Rosenthal, John D. Baxter, Robert J. Fletterick, Edward R.B. McCabe

    Izdano 1998
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  20. 20
    Expansion and mechanistic insights into <i>de novo</i> DEAF1 variants in <i>DEAF1</i>-associated neurodevelopmental disorders

    Expansion and mechanistic insights into <i>de novo</i> DEAF1 variants in <i>DEAF1</i>-associated neurodevelopmental disorders od Stacey McGee, Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C Falayi, Theresa A. Wilson, Brian J. Shayota, Jessica A. Cooley Coleman, Cindy Skinner, Raymond Caylor, Roger E. Stevenson, Caio Robledo D’Angioli Costa Quaio, Berenice Cunha Wilke, Jennifer Bain, Kwame Anyane‐Yeboa, Kaitlyn Brown, John M. Greally, Emilia K. Bijlsma, Claudia Ruivenkamp, Keren Politi, Lydia A. Arbogast, Michael W. Collard, Jodi I. Huggenvik, Sarah H. Elsea, Philip J. Jensik

    Izdano 2022
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