Arama Sonuçları - Zackai, Elaine H

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  1. 1
    Atlas of the face in genetic disorders

    Atlas of the face in genetic disorders Yazar: Zackai, Elaine H.

    Baskı/Yayın Bilgisi 1977
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  2. 2
    Robinow syndrome: a diagnosis at the fingertips

    Robinow syndrome: a diagnosis at the fingertips Yazar: Murali, Chaya N., Keena, Beth, Zackai, Elaine H.

    Baskı/Yayın Bilgisi 2018
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  3. 3
    CD4(+) CD25(+) T-Cell Production in Healthy Humans and in Patients with Thymic Hypoplasia

    CD4(+) CD25(+) T-Cell Production in Healthy Humans and in Patients with Thymic Hypoplasia Yazar: Sullivan, Kathleen E., McDonald-McGinn, Donna, Zackai, Elaine H.

    Baskı/Yayın Bilgisi 2002
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  4. 4
    Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families

    Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families Yazar: Shaikh, Tamim H., Budarf, Marcia L., Celle, Livija, Zackai, Elaine H., Emanuel, Beverly S.

    Baskı/Yayın Bilgisi 1999
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  5. 5
    Aortic Root Dilation in Patients With 22q11.2 Deletion Syndrome

    Aortic Root Dilation in Patients With 22q11.2 Deletion Syndrome Yazar: John, Anitha S., McDonald-McGinn, Donna M., Zackai, Elaine H., Goldmuntz, Elizabeth

    Baskı/Yayın Bilgisi 2009
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  6. 6
    Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 syndrome): Clinical features of 63 individuals

    Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 syndrome): Clinical features of 63 individuals Yazar: Carter, Melissa T, Pierre, Stephanie A St., Zackai, Elaine H, Emanuel, Beverly S, Boycott, Kym M

    Baskı/Yayın Bilgisi 2009
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  7. 7
    An Individual with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) and Additional Features Expands the Phenotype Associated with Mutations in KAT6B

    An Individual with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) and Additional Features Expands the Phenotype Associated with Mutations in KAT6B Yazar: Yu, Hung-Chun, Geiger, Elizabeth A., Medne, Livija, Zackai, Elaine H., Shaikh, Tamim H.

    Baskı/Yayın Bilgisi 2014
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  8. 8
    CHARGE Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Non-Immunologic Phenotypic Features

    CHARGE Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Non-Immunologic Phenotypic Features Yazar: Jyonouchi, Soma, McDonald-McGinn, Donna M., Bale, Sherri, Zackai, Elaine H., Sullivan, Kathleen E.

    Baskı/Yayın Bilgisi 2009
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  9. 9
    Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22)

    Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22) Yazar: Kurahashi, Hiroki, Shaikh, Tamim H., Zackai, Elaine H., Celle, Livija, Driscoll, Deborah A., Budarf, Marcia L., Emanuel, Beverly S.

    Baskı/Yayın Bilgisi 2000
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  10. 10
    Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome

    Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome Yazar: Wild, K. Taylor, Nomakuchi, Tomoki T., Sheppard, Sarah E., Leavens, Karla F., De León, Diva D., Zackai, Elaine H.

    Baskı/Yayın Bilgisi 2021
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  11. 11
    Phenotypic Modifications of Patients with Full Chromosome Aneuploidies and Concurrent Suspected or Confirmed Second Diagnoses

    Phenotypic Modifications of Patients with Full Chromosome Aneuploidies and Concurrent Suspected or Confirmed Second Diagnoses Yazar: Zarate, Yuri A., Bosanko, Katherine A., Bhoj, Elizabeth, Ganetzky, Rebecca, Starr, Lois J., Zackai, Elaine H., Schaefer, G. Bradley

    Baskı/Yayın Bilgisi 2015
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  12. 12
    Longitudinal Analysis of Lymphocyte Function and Numbers in the First Year of Life in Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

    Longitudinal Analysis of Lymphocyte Function and Numbers in the First Year of Life in Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome) Yazar: Sullivan, Kathleen E., McDonald-McGinn, Donna, Driscoll, Deborah A., Emanuel, Beverly S., Zackai, Elaine H., Jawad, Abbas F.

    Baskı/Yayın Bilgisi 1999
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  13. 13
    Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

    Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome) Yazar: Smith, Christopher A., Driscoll, Deborah A., Emanuel, Beverly S., McDonald-McGinn, Donna M., Zackai, Elaine H., Sullivan, Kathleen E.

    Baskı/Yayın Bilgisi 1998
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  14. 14
    Primary Amenorrhea and Absent Uterus in the 22q11.2 Deletion Syndrome

    Primary Amenorrhea and Absent Uterus in the 22q11.2 Deletion Syndrome Yazar: Sundaram, Usha T., McDonald-McGinn, Donna M., Huff, Dale, Emanuel, Beverly S., Zackai, Elaine H., Driscoll, Deborah A., Bodurtha, Joann

    Baskı/Yayın Bilgisi 2007
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  15. 15
    Three Patients With Oculo-Auriculo-Vertebral Spectrum and Microdeletion 22q11.2

    Three Patients With Oculo-Auriculo-Vertebral Spectrum and Microdeletion 22q11.2 Yazar: Digilio, M. Cristina, McDonald-McGinn, Donna M., Heike, Carrie, Catania, Charles, Dallapiccola, Bruno, Marino, Bruno, Zackai, Elaine H.

    Baskı/Yayın Bilgisi 2009
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  16. 16
    Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome

    Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome Yazar: Machado, Alexei M. C., Simon, Tony J., Nguyen, Vy, McDonald-McGinn, Donna M., Zackai, Elaine H., Gee, James C.

    Baskı/Yayın Bilgisi 2006
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  17. 17
    Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome

    Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome Yazar: Fine, Sarah E., Weissman, Alison, Gerdes, Marsha, Pinto-Martin, Jennifer, Zackai, Elaine H., McDonald-McGinn, Donna M., Emanuel, Beverly S.

    Baskı/Yayın Bilgisi 2005
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  18. 18
    Expanding the Differential Diagnosis of Fetal Hydrops: An Unusual Prenatal Presentation of Megalencephaly-Capillary Malformation Syndrome

    Expanding the Differential Diagnosis of Fetal Hydrops: An Unusual Prenatal Presentation of Megalencephaly-Capillary Malformation Syndrome Yazar: Swarr, Daniel T., Khalek, Nahla, Treat, James, Horton, Margaret A., Mirzaa, Ghayda M., Riviere, Jean-Baptiste, Dobyns, William B, Zackai, Elaine H.

    Baskı/Yayın Bilgisi 2013
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  19. 19
    Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

    Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism Yazar: Li, Dong, Strong, Alanna, Hou, Cuiping, Downes, Helen, Pritchard, Amanda Barone, Mazzeo, Pamela, Zackai, Elaine H., Conlin, Laura K., Hakonarson, Hakon

    Baskı/Yayın Bilgisi 2022
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  20. 20
    Hyperglycaemia after Stage I palliation does not adversely affect neurodevelopmental outcome at 1 year of age in patients with single-ventricle physiology,

    Hyperglycaemia after Stage I palliation does not adversely affect neurodevelopmental outcome at 1 year of age in patients with single-ventricle physiology, Yazar: Ballweg, Jean A., Ittenbach, Richard F., Bernbaum, Judy, Gerdes, Marsha, Dominguez, Troy E., Zackai, Elaine H., Clancy, Robert R., Gaynor, James William

    Baskı/Yayın Bilgisi 2009
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