Showing 121 - 136 results of 136 for search '"Case Reports in Genetics"', query time: 0.03s Refine Results
  1. 121
    Further Evidence That the CFTR Variant c.2620-6T>C Is Benign

    Further Evidence That the CFTR Variant c.2620-6T>C Is Benign by Violet I. Wallerstein, Robert Wallerstein

    Published 2017-01-01
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  2. 122
    Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

    Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient by Farmaditya E. P. Mundhofir, Helger G. Yntema, Ineke van der Burgt, Ben C. J. Hamel, Sultana M. H. Faradz, Bregje W. M. van Bon

    Published 2012-01-01
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  3. 123
    A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia

    A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia by Taishi Fujisawa, Yoshiyasu Aizawa, Yoshinori Katsumata, Akihiro Udo, Shogo Ito, Kazumasa Hatakeyama, Makoto Hirose, Hiroshi Miyama, Kazuaki Nakajima, Takahiko Nishiyama, Takehiro Kimura, Masamitsu Nitta, Kazuo Misumi, Seiji Takatsuki, Kenjiro Kosaki, Keiichi Fukuda

    Published 2019-01-01
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  4. 124
    Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

    Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature by Carlos Sánchez-Montenegro, Alejandra Vilanova-Sánchez, Saturnino Barrena-Delfa, Jair Tenorio, Fernando Santos-Simarro, Sixto García-Miñaur, Pablo Lapunzina, Leopoldo Martínez-Martínez

    Published 2017-01-01
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  5. 125
    An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine

    An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine by Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J. Vernon

    Published 2022-01-01
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  6. 126
    Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

    Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families by Maria Valencia, Lara Tabet, Nadine Yazbeck, Alia Araj, Victor L. Ruiz-Perez, Khalil Charaffedine, Farah Fares, Rebecca Badra, Chantal Farra

    Published 2015-01-01
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  7. 127
    Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis

    Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis by Fiona Whitaker, Alvaro Serrano

    Published 2024-01-01
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  8. 128
    Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation

    Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation by Nivedita U. Jerath

    Published 2019-01-01
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  9. 129
    Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient

    Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient by Nedal Bukhari, Faisal Azam, Mohammed Alfawaz, Mohammed Zahrani

    Published 2019-01-01
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  10. 130
    Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children

    Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children by Rathika Damodara Shenoy, Vijaya Shenoy, Vikram Shetty

    Published 2018-01-01
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  11. 131
    A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

    A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation by Giorgia Mandrile, Eleonora Di Gregorio, Alessandro Calcia, Alessandro Brussino, Enrico Grosso, Elisa Savin, Daniela Francesca Giachino, Alfredo Brusco

    Published 2014-01-01
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  12. 132
    Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy

    Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy by Xike Wang, Yue Wu, Yuxia Cui, Nan Wang, Lasse Folkersen, Yuchuan Wang

    Published 2018-01-01
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  13. 133
    Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient

    Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient by Melisa Taboas, Cecilia Fernández, Susana Belli, Noemi Buzzalino, Liliana Alba, Liliana Dain

    Published 2013-01-01
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  14. 134
    A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels

    A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels by Kousar Jahan Syeeda Khursheed, Mohammed Rahman Kaleemullah, Annu Joseph, Mohammed Hasan Al Durazi, Moiz Bakhiet

    Published 2023-01-01
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  15. 135
    Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family

    Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family by E. M. Abdalla, H. Morsy

    Published 2011-01-01
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  16. 136
    Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing

    Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing by Ahmed Bouhouche, Houyam Tibar, Yamna Kriouale, Mohammed Jiddane, Imane Smaili, Naima Bouslam, Ali Benomar, Mohamed Yahyaoui, Elmostafa El Fahime

    Published 2018-01-01
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