Showing 101 - 120 results of 136 for search '"Case Reports in Genetics"', query time: 0.05s Refine Results
  1. 101
    Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes

    Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes by Matthew J. Garabedian, Donna Wallerstein, Nubia Medina, James Byrne, Robert J. Wallerstein

    Published 2012-01-01
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  2. 102
    Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

    Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report by Neerja Gupta, Anita Kaul, Madhulika Kabra

    Published 2013-01-01
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  3. 103
    Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene

    Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene by Teva Brender, Donna Wallerstein, John Sum, Robert Wallerstein

    Published 2015-01-01
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  4. 104
    A Rare Case of Severe Congenital RYR1-Associated Myopathy

    A Rare Case of Severe Congenital RYR1-Associated Myopathy by Nicola Laforgia, Manuela Capozza, Lucrezia De Cosmo, Antonio Di Mauro, Maria Elisabetta Baldassarre, Francesca Mercadante, Anna Laura Torella, Vincenzo Nigro, Nicoletta Resta

    Published 2018-01-01
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  5. 105
    Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome

    Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome by Tanjung A. Sumekar, Aneel A. Ashrani, Tri I. Winarni, Randi J. Hagerman

    Published 2011-01-01
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  6. 106
    Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

    Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations by Nirmala D. Sirisena, U. Kalpani S. Wijetunge, Ramya de Silva, Vajira H. W. Dissanayake

    Published 2013-01-01
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  7. 107
    Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding

    Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding by Julie Fischer, Luis Rohena

    Published 2022-01-01
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  8. 108
    Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome

    Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome by Thi Kim Lien Nguyen, Van Dem Pham, Thu Huong Nguyen, Trung Kien Pham, Thi Quynh Huong Nguyen, Huy Hoang Nguyen

    Published 2017-01-01
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  9. 109
    Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

    Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome by Euthymia Vargiami, Athina Ververi, Hamda Al-Mutawa, Georgia Gioula, Spyridon Gerou, Fotios Rouvalis, Marios Kambouris, Dimitrios I. Zafeiriou

    Published 2016-01-01
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  10. 110
    Corrigendum to “Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features”

    Corrigendum to “Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features” by Jacquelyn D. Riley, Catherine M. Stefaniuk, Francine Erenberg, Angelika L. Erwin, Lauren Palange, Caroline Astbury

    Published 2019-01-01
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  11. 111
    Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia

    Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia by Leema Reddy Peddareddygari, Raji P. Grewal

    Published 2015-01-01
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  12. 112
    MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis

    MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis by Anna Dabkowska-Huc, Piotr Skalba, Antoni Pyrkosz

    Published 2013-01-01
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  13. 113
    8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy

    8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy by Alejandra Rincon, Paola Paez-Rojas, Fernando Suárez-Obando

    Published 2019-01-01
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  14. 114
    Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa

    Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa by Sébastien Mbuyi-Musanzayi, Aimé Lumaka, Bienvenu Yogolelo Asani, Toni Lubala Kasole, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, François Tshilombo Katombe, Koenraad Devriendt

    Published 2014-01-01
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  15. 115
    Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

    Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome by Michael T. Zimmermann, Raul A. Urrutia, Patrick R. Blackburn, Margot A. Cousin, Nicole J. Boczek, Eric W. Klee, Colleen Macmurdo, Paldeep S. Atwal

    Published 2017-01-01
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  16. 116
    Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency

    Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency by Piotr K. Janicki, Sonia Vaida, Hamid A. B. AL-Mondhiry

    Published 2013-01-01
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  17. 117
    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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  18. 118
    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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  19. 119
    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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  20. 120
    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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