Search Results - Anyane‐Yeboa, Kwame

Refine Results
  1. 1
    A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis

    A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis by Lubell, Tamar, Garzon, Maria, Anyane−Yeboa, Kwame, Shah, Bina

    Published 2009
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  2. 2
    Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intragenic Deletion (IVS7–19 to IVS15–17) in a Patient with Glycogen Storage Disease Type II

    Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intragenic Deletio... by Huie, Maryann L., Anyane-Yeboa, Kwame, Guzman, Edwin, Hirschhorn, Rochelle

    Published 2002
    Get full text Get full text
    Text
    Save to List
    Saved in:
  3. 3
    Networks of Attention in Children With the 22q11 Deletion Syndrome

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

    Published 2004
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  4. 4
    Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report

    Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report by Censani, Marisa, Anyane-Yeboa, Kwame, Wapner, Ronald, Spiegel, Erica, Guzman, Edwin, Oberfield, Sharon E

    Published 2013
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  5. 5
    3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities

    3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities by Barua, Subit, Pereira, Elaine M., Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Levy, Brynn, Liao, Jun

    Published 2022
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  6. 6
    Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase

    Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase by Sparling, David P., Fabian, Kendra, Harik, Lara, Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Oberfield, Sharon E., Fennoy, Ilene

    Published 2016
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  7. 7
    Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay

    Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay by Okur, Volkan, LeDuc, Charles A., Guzman, Edwin, Valivullah, Zaheer M., Anyane-Yeboa, Kwame, Chung, Wendy K.

    Published 2019
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  8. 8
    NEUROPSYCHOLOGICAL CHARACTERISTICS OF CHILDREN WITH THE 22q11 DELETION SYNDROME: A DESCRIPTIVE ANALYSIS

    NEUROPSYCHOLOGICAL CHARACTERISTICS OF CHILDREN WITH THE 22q11 DELETION SYNDROME: A DESCRIPTIVE ANALYSIS by Sobin, Christina, Kiley-Brabeck, Karen, Daniels, Sarah, Khuri, Jananne, Taylor, Lisa, Blundell, Maude, Anyane-Yeboa, Kwame, Karayiorgou, Maria

    Published 2005
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  9. 9
    Presumptive Diagnosis of Pallister-Hall Syndrome Using Magnetic Resonance Imaging

    Presumptive Diagnosis of Pallister-Hall Syndrome Using Magnetic Resonance Imaging by Mehkri, Yusuf, Surapaneni, Krishna, Tarhan, Bedirhan, Eisenbach, Tiffany, Bilgili, Ahmet, Tuna, Ibrahim S, Shuhaiber, Hans H, Anyane-Yeboa, Kwame

    Published 2022
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  10. 10
    Retinoblastoma Presenting in a Child with Hypomelanosis of Ito

    Retinoblastoma Presenting in a Child with Hypomelanosis of Ito by El-Sawy, Tarek, He, Lingmin, Chiang, Michael F, Anyane-Yeboa, Kwame, Morel, Kimberly D, Folberg, Robert, Marr, Brian P, Abramson, David

    Published 2011
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  11. 11
    New Diagnosis of Atypical Ataxia-Telangiectasia in a 17-Year-Old Boy with T-Cell Acute Lymphoblastic Leukemia and a Novel ATM mutation

    New Diagnosis of Atypical Ataxia-Telangiectasia in a 17-Year-Old Boy with T-Cell Acute Lymphoblastic Leukemia and a Novel ATM mutation by Roohi, Jasmin, Crowe, Jennifer, Loredan, Denis, Anyane-Yeboa, Kwame, Mansukhani, Mahesh M., Omesi, Lenore, Levine, Jennifer, Politi, Anya Revah, Zha, Shan

    Published 2017
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  12. 12
    A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

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

    Published 2019
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  13. 13
    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 by Graham, Jr., John M., Anyane-Yeboa, Kwame, Raams, Anja, Appeldoorn, Esther, Kleijer, Wim J., Garritsen, Victor H., Busch, David, Edersheim, Terri G., Jaspers, Nicolaas G. J.

    Published 2001
    Get full text Get full text
    Text
    Save to List
    Saved in:
  14. 14
    Prenatal diagnosis of sickle hemoglobinopathies: The experience of the Columbia university comprehensive center for sickle cell disease

    Prenatal diagnosis of sickle hemoglobinopathies: The experience of the Columbia university comprehensive center for sickle cell disease by Driscoll, M. Catherine, Lerner, Norma, Anyane-Yeboa, Kwame, Maidman, Jack, Warburton, Dorothy, Schaefer-Rego, Kim, Hsu, Ruth, Ince, Carol, Malin, Joanne, Pallai, Michele, Mears, J. Gregory, Bank, Arthur

    Published 1987
    Get full text Get full text
    Text
    Save to List
    Saved in:
  15. 15
    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 by Wang, Yuexia, Lichter-Konecki, Uta, Anyane-Yeboa, Kwame, Shaw, Jessica E., Lu, Jonathan T., Östlund, Cecilia, Shin, Ji-Yeon, Clark, Lorraine N., Gundersen, Gregg G., Nagy, Peter L., Worman, Howard J.

    Published 2016
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  16. 16
    Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother

    Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother by Wise-Oringer, Brittany K, Zanazzi, George J, Gordon, Rebecca J, Wardlaw, Sharon L, William, Christopher, Anyane-Yeboa, Kwame, Chung, Wendy K, Kohn, Brenda, Wisoff, Jeffrey H, David, Raphael, Oberfield, Sharon E

    Published 2019
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  17. 17
    De novo mutations in PURA are associated with hypotonia and developmental delay

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

    Published 2015
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  18. 18
    Characterization of the Chromosome 1q41q42.12 region, and the Candidate Gene DISP1, in Patients with CDH

    Characterization of the Chromosome 1q41q42.12 region, and the Candidate Gene DISP1, in Patients with CDH by Kantarci, Sibel, Ackerman, Kate G, Russell, Meaghan N, Longoni, Mauro, Sougnez, Carrie, Noonan, Kristin M, Hatchwell, Eli, Zhang, Xiaoyun, Vanmarcke, Rafael Pieretti, Anyane-Yeboa, Kwame, Dickman, Paul, Wilson, Jay, Donahoe, Patricia K, Pober, Barbara R

    Published 2010
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  19. 19
    CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy

    CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy by Behr, Gerald G, Liberman, Leonardo, Compton, Jocelyn, Garzon, Maria C, Morel, Kimberly D, Lauren, Christine T, Starc, Thomas J, Kovacs, Stephen J, Beltroni, Vincent, Landres, Rachel, Anyane-Yeboa, Kwame, Meyers, Philip M, Bacha, Emile, Kandel, Jessica J

    Published 2012
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  20. 20
    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... by Warburton, Dorothy, Ronemus, Michael, Kline, Jennie, Jobanputra, Vaidehi, Williams, Ismee, Anyane-Yeboa, Kwame, Chung, Wendy, Yu, Lan, Wong, Nancy, Awad, Danielle, Yu, Chih-yu, Leotta, Anthony, Kendall, Jude, Yamrom, Boris, Lee, Yoon-ha, Wigler, Michael, Levy, Dan

    Published 2013
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:

Search Tools: