Showing 41 - 60 results of 141 for search '"Case Reports in Genetics"', query time: 0.04s Refine Results
  1. 41
    A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder

    A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder by Daniel Arbide, Nour Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park

    Published 2024-01-01
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  2. 42
    Genomic Characterization of Radiation-Induced Intracranial Undifferentiated Pleomorphic Sarcoma

    Genomic Characterization of Radiation-Induced Intracranial Undifferentiated Pleomorphic Sarcoma by Christopher S. Hong, Edwin Partovi, James Clune, Anita Huttner, Henry S. Park, Sacit Bulent Omay

    Published 2021-01-01
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  3. 43
    Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

    Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene by Salma M. Wakil, Dorota Monies, Samya Hagos, Fahad Al-Ajlan, Josef Finsterer, Aisha Al Qahtani, Khushnooda Ramzan, Rawan Al Humaidy, Mohamed A. Al-Muhaizea, Brian Meyer, Saeed A. Bohlega

    Published 2018-01-01
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  4. 44
    A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case

    A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case by Jose G. Acuña-Ochoa, Norma A. Balderrábano-Saucedo, Ana C. Cepeda-Nieto, Maria Y. Alvarado-Cervantes, Vianca L. Ibarra-Garcia, Daniel Barr, Matthew J. Gage, Ryan Pfeiffer, Dan Hu, Hector Barajas-Martinez

    Published 2024-01-01
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  5. 45
    Methylmalonic Acidemia with Novel MUT Gene Mutations

    Methylmalonic Acidemia with Novel MUT Gene Mutations by Inusha Panigrahi, Savita Bhunwal, Harish Varma, Simranjeet Singh

    Published 2017-01-01
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  6. 46
    Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20

    Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20 by Thiago Corrêa, Amanda Cristina Venâncio, Marcial Francis Galera, Mariluce Riegel

    Published 2020-01-01
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  7. 47
    Detection of t(14;16)(q32;q22) and Monosomy 13 by FISH Analysis in a Patient with Multiple Myeloma Associated with Sjögren’s Syndrome: The First Case Report from India

    Detection of t(14;16)(q32;q22) and Monosomy 13 by FISH Analysis in a Patient with Multiple Myeloma Associated with Sjögren’s Syndrome: The First Case Report from India by Rupesh R. Sanap, Arundhati S. Athalye, Prochi F. Madon, Boman N. Dhabhar, Mahendra B. Sute, Amit A. Mahabale, Dhanashree J. Warang, Firuza R. Parikh

    Published 2013-01-01
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  8. 48
    Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

    Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm by Mariangela Cisternino, Erika Della Mina, Laura Losa, Alexandra Madè, Giulia Rossetti, Lorenzo Andrea Bassi, Giovanni Pieri, Baran Bayindir, Jole Messa, Orsetta Zuffardi, Roberto Ciccone

    Published 2013-01-01
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  9. 49
    Warfarin Dosing in a Patient with CYP2C9*3*3 and VKORC1-1639 AA Genotypes

    Warfarin Dosing in a Patient with CYP2C9*3*3 and VKORC1-1639 AA Genotypes by Mark Johnson, Craig Richard, Renee Bogdan, Robert Kidd

    Published 2014-01-01
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  10. 50
    Pitfalls in Genetic Testing for Consanguineous Pediatric Populations

    Pitfalls in Genetic Testing for Consanguineous Pediatric Populations by Maha Saleh, Samantha Colaiacovo, Melanie P. Napier, Asuri N. Prasad, C. Anthony Rupar, Chitra Prasad

    Published 2022-01-01
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  11. 51
    T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature

    T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature by Kwo Wei David Ho, Nivedita U. Jerath

    Published 2018-01-01
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  12. 52
    11p15.4 Microdeletion Associates with Hemihypertrophy

    11p15.4 Microdeletion Associates with Hemihypertrophy by Surasak Puvabanditsin, Mehrin Sadiq, Marianne Jacob, Maaz Jalil, Kenya Cabrera, Omer Choudry, Rajeev Mehta

    Published 2018-01-01
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  13. 53
    A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening

    A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening by Melissa A. Hicks, Emilie Lalonde, Jessica Zoladz, Bernard Gonik, Salah Ebrahim

    Published 2023-01-01
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  14. 54
    Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema

    Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema by Antoneicka L. Harris, Patrick R. Blackburn, John E. Richter, Jennifer M. Gass, Thomas R. Caulfield, Ahmed N. Mohammad, Paldeep S. Atwal

    Published 2018-01-01
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  15. 55
    Behçet Disease-Like Symptoms with a Novel COPA Mutation

    Behçet Disease-Like Symptoms with a Novel COPA Mutation by E. Anderson, J. Hatch, J. Cardinal, D. Langguth, D. Coman

    Published 2020-01-01
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  16. 56
    Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia

    Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia by F. Malvestiti, C. Agrati, S. Chinetti, A. Di Meco, S. Cirrincione, M. Oggionni, B. Grimi, F. Maggi, G. Simoni, F. R. Grati

    Published 2014-01-01
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  17. 57
    Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene

    Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene by Gulden Diniz, Hulya Tosun Yildirim, Sarenur Gokben, Gul Serdaroglu, Filiz Hazan, Kanay Yararbas, Ajlan Tukun

    Published 2014-01-01
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  18. 58
    Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features

    Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features by Ozgul Bulut, Zeynep Ince, Umut Altunoglu, Sukran Yildirim, Asuman Coban

    Published 2017-01-01
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  19. 59
    LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient

    LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient by Ivanka Dimova, Ivo Kremensky

    Published 2018-01-01
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  20. 60
    Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases

    Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases by Ho-Ming Luk

    Published 2016-01-01
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