Showing 61 - 80 results of 136 for search '"Case Reports in Genetics"', query time: 0.05s Refine Results
  1. 61
    De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism

    De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism by Jennifer Carter, Melinda Zombor, Adrienn Máté, László Sztriha, Jonathan J. Waters

    Published 2016-01-01
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  2. 62
    Hepatocellular Carcinoma in a 24-Year-Old Female with Beckwith–Wiedemann Syndrome: A Case Report and Review of the Literature

    Hepatocellular Carcinoma in a 24-Year-Old Female with Beckwith–Wiedemann Syndrome: A Case Report and Review of the Literature by Carolyn G. Ahlers, Quoc-Huy Trinh, Martin Montenovo

    Published 2020-01-01
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  3. 63
    Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

    Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature by C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, L. P. C. Saman Kumara, V. H. W. Dissanayake

    Published 2016-01-01
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  4. 64
    Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association

    Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association by Nagendra Chaudhary, Sandeep Shrestha, Hemant Kumar Halwai

    Published 2017-01-01
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  5. 65
    A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice

    A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice by Akihiro Kirimura, Hajime Yasuhara, Soshi Hachisuka, Kumiko Takagi, Reiko Ebisu, Ayako Ohgitani, Hideki Minowa

    Published 2022-01-01
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  6. 66
    Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1

    Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1 by Sabrina C. Burn, Kali Swift, Maria Palmquist

    Published 2018-01-01
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  7. 67
    Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)

    Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3) by Norma Elena de León Ojeda, Michel Soriano-Torres, Mercedes J. Cabrera, Dunia Bárbara Benítez Ramos

    Published 2012-01-01
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  8. 68
    Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome

    Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome by Kyriaki Papadopoulou-Legbelou, Maria Ntoumpara, Maria Kavga, Eleni P. Kotanidou, Ioannis Papoulidis, Assimina Galli-Tsinopoulou, Maria Fotoulaki

    Published 2024-01-01
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  9. 69
    Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated Liposarcoma

    Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated Liposarcoma by Hongyan Chai, Fang Xu, Autumn DiAdamo, Brittany Grommisch, Huanzhi Mao, Peining Li

    Published 2022-01-01
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  10. 70
    Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene

    Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene by Guy Massa, Philippe Gillis, Marianne Schwartz

    Published 2011-01-01
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  11. 71
    Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)

    Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report) by Zul Qarnain, Fatima Khan, Fizza Akbar, Salman Kirmani

    Published 2022-01-01
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  12. 72
    Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait

    Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait by Nyamkhishig Sambuughin, Mingqiang Ren, John F. Capacchione, Ognoon Mungunsukh, Kevin Chuang, Iren Horkayne-Szakaly, Francis G. O’Connor, Patricia A. Deuster

    Published 2018-01-01
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  13. 73
    A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis

    A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis by Daigo Nishijo, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Norihiko Takeda, Issei Komuro

    Published 2024-01-01
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  14. 74
    12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region

    12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region by Adrian Mc Cormack, Cynthia Sharpe, Nerine Gregersen, Warwick Smith, Ian Hayes, Alice M. George, Donald R. Love

    Published 2015-01-01
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  15. 75
    Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta

    Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta by Veronica Ortega, Christina Mendiola, Eric Williamson, Kenneth Higby, Gopalrao V. N. Velagaleti

    Published 2013-01-01
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  16. 76
    Corrigendum to “Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review”

    Corrigendum to “Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review” by Jamie H. Choi, Rachel Li, Rachel Gannaway, Tahnee N. Causey, Anna Harrison, Natario L. Couser

    Published 2020-01-01
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  17. 77
    A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia

    A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia by Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman

    Published 2023-01-01
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  18. 78
    Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder

    Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder by Inusha Panigrahi, Manoj Dhanorkar, Renu Suthar, Chanchal Kumar, Mullai Baalaaji, Babu Ram Thapa, Jasvinder Kalra

    Published 2019-01-01
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  19. 79
    SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities

    SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities by Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M. Strom, Wolfgang Grisold, Werner Poewe, Juliane Winkelmann

    Published 2017-01-01
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  20. 80
    SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease

    SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease by J. M. Ramirez, F. A. Rodríguez, M. I. Echeverría, A. L. Vargas, A. E. Calderón, R. M. Miatello, N. F. Renna

    Published 2019-01-01
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