Showing 101 - 120 results of 141 for search '"Case Reports in Genetics"', query time: 0.05s Refine Results
  1. 101
    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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  2. 102
    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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  3. 103
    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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  4. 104
    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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  5. 105
    Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case

    Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case by A. H. Sabir, G. Ryan, Z. Mohammed, J. Kirk, N. Kiely, M. Thyagarajan, T. Cole

    Published 2019-01-01
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  6. 106
    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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  7. 107
    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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  8. 108
    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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  9. 109
    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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  10. 110
    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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  11. 111
    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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  12. 112
    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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  13. 113
    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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  14. 114
    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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  15. 115
    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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  16. 116
    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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  17. 117
    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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  18. 118
    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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  19. 119
    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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  20. 120
    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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