Suggested Topics within your search.
Showing 2,581 - 2,600 results of 11,391 for search '"genetics"', query time: 0.07s Refine Results
  1. 2581
    12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region

    12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region by Adrian Mc Cormack, Cynthia Sharpe, Nerine Gregersen, Warwick Smith, Ian Hayes, Alice M. George, Donald R. Love

    Published 2015-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  2. 2582
    Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta

    Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta by Veronica Ortega, Christina Mendiola, Eric Williamson, Kenneth Higby, Gopalrao V. N. Velagaleti

    Published 2013-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  3. 2583
    Association Between GSK3β Gene Polymorphisms (rs334558 and rs3755557) with Schizophrenia Risk

    Association Between GSK3β Gene Polymorphisms (rs334558 and rs3755557) with Schizophrenia Risk by Maryam Montazeri Dehbarez, Dormohammad Kordi Tamandani, Nasim Naeimi, Shahram Vaziri, Mohammad Shekari

    Published 2024-09-01
    “…Journal of Genetic Resources…”
    Get full text
    Article
    Save to List
    Saved in:
  4. 2584
    Corrigendum to “Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review”

    Corrigendum to “Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review” by Jamie H. Choi, Rachel Li, Rachel Gannaway, Tahnee N. Causey, Anna Harrison, Natario L. Couser

    Published 2020-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  5. 2585
    A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia

    A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia by Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman

    Published 2023-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  6. 2586
    Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder

    Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder by Inusha Panigrahi, Manoj Dhanorkar, Renu Suthar, Chanchal Kumar, Mullai Baalaaji, Babu Ram Thapa, Jasvinder Kalra

    Published 2019-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  7. 2587
    SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities

    SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities by Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M. Strom, Wolfgang Grisold, Werner Poewe, Juliane Winkelmann

    Published 2017-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  8. 2588
    SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease

    SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease by J. M. Ramirez, F. A. Rodríguez, M. I. Echeverría, A. L. Vargas, A. E. Calderón, R. M. Miatello, N. F. Renna

    Published 2019-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  9. 2589
    Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease

    Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease by Pankaj Thakur, Paul Speer, Aleksandar Rajkovic

    Published 2014-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  10. 2590
    An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly

    An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly by J. Carter, H. Brittain, D. Morrogh, N. Lench, J. J. Waters

    Published 2017-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  11. 2591
    Microduplication of 3p26.3 Implicated in Cognitive Development

    Microduplication of 3p26.3 Implicated in Cognitive Development by Leah Te Weehi, Raj Maikoo, Adrian Mc Cormack, Roberto Mazzaschi, Fern Ashton, Liangtao Zhang, Alice M. George, Donald R. Love

    Published 2014-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  12. 2592
    Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia

    Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia by D. Hettiarachchi, Hetalkumar Panchal, B. A. P. S. Pathirana, P. D. Rathnayaka, A. Padeniya, P. S. Lai, V. H. W. Dissanayake

    Published 2020-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  13. 2593
    Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes

    Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes by D. Hettiarachchi, B. A. P. S. Pathirana, P. J. Kumarasiri, V. H. W. Dissanayake

    Published 2019-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  14. 2594
    Early Morphokinetic Monitoring of Embryos after Intracytoplasmic Sperm Injection with Fresh Ejaculate Sperm in Nonmosaic Klinefelter Syndrome: A Different Presentation

    Early Morphokinetic Monitoring of Embryos after Intracytoplasmic Sperm Injection with Fresh Ejaculate Sperm in Nonmosaic Klinefelter Syndrome: A Different Presentation by Ali Sami Gurbuz, Ahmet Salvarci, Necati Ozcimen, Ayse Gul Zamani

    Published 2015-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  15. 2595
    Delayed Diagnosis of McCune–Albright Syndrome

    Delayed Diagnosis of McCune–Albright Syndrome by Bereket Fantahun, Seblewongel Desta

    Published 2021-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  16. 2596
    Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion

    Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion by Allison Tam, Kit Shan Lee, Sansan Lee, William Burkhalter, Lucio U. Pascua, Thomas P. Slavin

    Published 2013-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  17. 2597
    The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease

    The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease by Mónica Furlano, Elisabet Ars, Anna Matamala, Vicens Brossa, Joan Martí, Maria del Prado-Venegas, Jaume Crespi, Esther Roe, Roser Torra

    Published 2022-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  18. 2598
    Investigation of the Morphometric Diversity of Ali Kazemi Rice in Iran

    Investigation of the Morphometric Diversity of Ali Kazemi Rice in Iran by Seyedeh Mahsa Safiedin Ardebili, Reza Azizinezhad, Sara Saadatmand, Rahim Ahmadvand, Iraj Mehregan

    Published 2024-09-01
    “…Journal of Genetic Resources…”
    Get full text
    Article
    Save to List
    Saved in:
  19. 2599
    “Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case

    “Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case by Anne-Laure Bonnet, Kevin Sceosole, Arabelle Vanderzwalm, Caroline Silve, Anne-Margaux Collignon, Celine Gaucher

    Published 2020-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  20. 2600
    Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes

    Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes by Attila Szvetko, Nicole Martin, Chris Joy, Andrea Hayward, Bob Watson, Andrew Cary, Stephen Withers

    Published 2012-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:

Search Tools: