Showing 121 - 140 results of 141 for search '"Case Reports in Genetics"', query time: 0.02s Refine Results
  1. 121
    A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome

    A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome by M. A. Ramirez-Garcia, O. F. Chacon-Camacho, C. Leyva-Hernandez, A. Cardenas-Conejo, J. C. Zenteno

    Published 2013-01-01
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  2. 122
    Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)

    Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln) by Nivedita U. Jerath, Tiffany Grider, Michael E. Shy

    Published 2015-01-01
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  3. 123
    First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7

    First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7 by Lindsay B. Henderson, Virginia L. Corson, Daniel O. Saul, Cynthia Anderson, Sarah Millard, Denise A. S. Batista, Karin J. Blakemore, Cheryl DeScipio

    Published 2013-01-01
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  4. 124
    Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

    Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes by Francesca Malvestiti, Francesco Benedicenti, Simona De Toffol, Sara Chinetti, Adelheid Höller, Beatrice Grimi, Gertrud Fichtel, Monica Braghetto, Cristina Agrati, Eleonora Bonaparte, Federico Maggi, Giuseppe Simoni, Francesca Romana Grati

    Published 2013-01-01
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  5. 125
    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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  6. 126
    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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  7. 127
    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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  8. 128
    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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  9. 129
    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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  10. 130
    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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  11. 131
    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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  12. 132
    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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  13. 133
    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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  14. 134
    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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  15. 135
    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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  16. 136
    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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  17. 137
    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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  18. 138
    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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  19. 139
    FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome?

    FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome? by Hugo Mendieta-Zerón, Angélica Jiménez-Rosales, Carlos Jhovani Pérez-Amado, Silvia Jiménez-Morales

    Published 2017-01-01
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  20. 140
    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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