Suggested Topics within your search.
Showing 6,461 - 6,480 results of 6,902 for search 'HDNet~', query time: 1.89s Refine Results
  1. 6461
    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:
  2. 6462
    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:
  3. 6463
    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:
  4. 6464
    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:
  5. 6465
    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:
  6. 6466
    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:
  7. 6467
    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:
  8. 6468
    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:
  9. 6469
    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:
  10. 6470
    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:
  11. 6471
    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:
  12. 6472
    “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:
  13. 6473
    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:
  14. 6474
    4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay

    4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay by Yukino Kawanami, Tomoko Horinouchi, Naoya Morisada, Takeshi Kato, Kandai Nozu

    Published 2023-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  15. 6475
    Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians

    Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians by Parminder Kaur, Inusha Panigrahi, Harleen Kaur, Thakurvir Singh, Chakshu Chaudhry

    Published 2021-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  16. 6476
    A Case of False Negative NIPT for Down Syndrome-Lessons Learned

    A Case of False Negative NIPT for Down Syndrome-Lessons Learned by Meagan Smith, Kimberly M. Lewis, Alexandrea Holmes, Jeannie Visootsak

    Published 2014-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  17. 6477
    Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome

    Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome by T. M. Morgan, J. M. Colazo, L. Duncan, R. Hamid, K. M. Joos

    Published 2019-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  18. 6478
    An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms

    An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms by Ivan Y. Iourov, Svetlana G. Vorsanova, Oxana S. Kurinnaia, Yuri B. Yurov

    Published 2013-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  19. 6479
    Bioinformatic Prediction of Novel microRNAs Encoded in Krüppel-like Factor 4 Gene

    Bioinformatic Prediction of Novel microRNAs Encoded in Krüppel-like Factor 4 Gene by Mina Zahiri, Maryam Hassanlou, Amir-Reza Javanmard, Nooshin Bijari

    Published 2024-02-01
    “…Journal of Genetic Resources…”
    Get full text
    Article
    Save to List
    Saved in:
  20. 6480
    Identification of the Genomics and Transcriptomics Regulators of the DNA Damage Response in Breast Cancer

    Identification of the Genomics and Transcriptomics Regulators of the DNA Damage Response in Breast Cancer by Mehdi Sadeghi, Mohammad Reza Karimi, Amir Hossein Karimi

    Published 2024-02-01
    “…Journal of Genetic Resources…”
    Get full text
    Article
    Save to List
    Saved in:

Search Tools: