检索结果 - 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 由 Christina Sobin, Karen Kiley‐Brabeck, Sarah Daniels, Maude L. Blundell, Kwame Anyane‐Yeboa, Maria Karayiorgou

    出版 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 由 Denise O’Keefe, Diem Dao, Long Zhao, Rhonda Sanderson, Dorothy Warburton, Lawrence M. Weiss, Kwame Anyane‐Yeboa, Benjamin Tycko

    出版 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 由 Christina Sobin, Karen Kiley‐Brabeck, Sarah Daniels, Jananne Khuri, Lisa Taylor, Maude L. Blundell, Kwame Anyane‐Yeboa, Maria Karayiorgou

    出版 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 由 Jobanputra, Vaidehi, Burke, Alanna, Kwame, Anyane-Yeboa, Shanmugham, Anita, Shirazi, Maryam, Brown, Stephen, Warburton, Peter E., Levy, Brynn, Warburton, Dorothy

    出版 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 由 Alejandro Iglesias, Kwame Anyane‐Yeboa, Julia Wynn, Ashley Wilson, Megan Truitt Cho, Edwin R. Guzman, Rebecca Sisson, Claire Egan, Wendy K. Chung

    出版 2014
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  6. 6
    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 由 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

    出版 2001
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  7. 7
    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 由 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

    出版 2016
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  8. 8
    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 由 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

    出版 2015
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  9. 9
    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 由 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

    出版 2010
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  10. 10
    Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome Patients

    Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome Patients 由 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

    出版 1997
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  11. 11
    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... 由 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

    出版 2013
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  12. 12
    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 由 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

    出版 2017
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  13. 13
    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 由 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

    出版 2014
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  14. 14
    Nine novel mutations inNR0B1 (DAX1) causing adrenal hypoplasia congenita

    Nine novel mutations inNR0B1 (DAX1) causing adrenal hypoplasia congenita 由 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

    出版 2001
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  15. 15
    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 由 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

    出版 2022
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  16. 16
    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 由 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

    出版 2021
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  17. 17
    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 由 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

    出版 2013
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  18. 18
    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 由 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

    出版 1998
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  19. 19
    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 由 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

    出版 2022
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  20. 20
    The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

    The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations 由 Chun‐An Chen, Daniëlle G.M. Bosch, Megan T. Cho, Jill A. Rosenfeld, Marwan Shinawi, Richard A. Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence E. Walsh, Timothy Moss, Allison Schreiber, Cheri Schoonveld, Kristin G. Monaghan, Frances Elmslie, Ganka Douglas, F. Nienke Boonstra, Francisca Millan, Frans P.M. Cremers, Dianalee McKnight, Gabriele Richard, Jane Juusola, Fran Kendall, Keri Ramsey, Kwame Anyane‐Yeboa, Elfrida Malkin, Wendy K. Chung, Dmitriy Niyazov, Juan M. Pascual, Magdalena Walkiewicz, Vivekanand Veluchamy, Chumei Li, Fuki M. Hisama, Bert B.A. de Vries, Christian P. Schaaf

    出版 2016
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