Showing 81 - 100 results of 136 for search '"Case Reports in Genetics"', query time: 0.03s Refine Results
  1. 81
    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
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  2. 82
    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
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  3. 83
    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
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  4. 84
    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
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  5. 85
    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
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  6. 86
    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
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  7. 87
    Delayed Diagnosis of McCune–Albright Syndrome

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

    Published 2021-01-01
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  8. 88
    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
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  9. 89
    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
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  10. 90
    Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors

    Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors by Hiroshi Kobayashi, Masahiro Shin, Naohiro Makise, Aya Shinozaki-Ushiku, Masachika Ikegami, Yuki Taniguchi, Yusuke Shinoda, Shinji Kohsaka, Tetsuo Ushiku, Katsutoshi Oda, Kiyoshi Miyagawa, Hiroyuki Aburatani, Hiroyuki Mano, Sakae Tanaka

    Published 2020-01-01
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  11. 91
    “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
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  12. 92
    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
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  13. 93
    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
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  14. 94
    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
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  15. 95
    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
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  16. 96
    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
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  17. 97
    V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I

    V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I by Kwo Wei David Ho, Nivedita U. Jerath

    Published 2018-01-01
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  18. 98
    A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period

    A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period by Kiichi Takahashi, Hiroyuki Adachi, Manatomo Toyono, Masato Ito, Akie Kato, Atsuko Noguchi, Tsutomu Takahashi

    Published 2020-01-01
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  19. 99
    Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

    Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features by Jennifer L. Roberts, Stephanie K. Gandomi, Melissa Parra, Ira Lu, Chia-Ling Gau, Majed Dasouki, Merlin G. Butler

    Published 2014-01-01
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  20. 100
    Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

    Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea by Usha R. Dutta, Vijaya Kumar Pidugu, Ashwin Dalal

    Published 2012-01-01
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