Showing 1 - 20 results of 27 for search '"Case Reports in Genetics"', query time: 0.46s Refine Results
  1. 1
    Corrigendum #2 to “Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review”

    Corrigendum #2 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 2021-01-01
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  2. 2
    A Novel SPAST Variant Associated with Isolated Spastic Paraplegia

    A Novel SPAST Variant Associated with Isolated Spastic Paraplegia by Helle Høyer, Ola Nakken, Trygve Holmøy

    Published 2023-01-01
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  3. 3
    A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1

    A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1 by Elizaveta Makarova, Nicole R. Legro, Ermal Aliu

    Published 2023-01-01
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  4. 4
    A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant

    A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant by Michael Gibbs, Alysa Poulin, Yanwei Xi, Bita Hashemi

    Published 2023-01-01
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  5. 5
    Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia

    Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia by Osama Obaid, Reem Batawi, Heba Alqurashi, Thana Ewis, Ahmad A. Obaid

    Published 2024-01-01
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  6. 6
    Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the β-Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran

    Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the β-Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran by Hossein Jalali, Mahan Mahdavi, Mohammad Eslamijouybari, Mohammad Reza Mahdavi

    Published 2023-01-01
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  7. 7
    Case Report of Fibro-Adipose Vascular Anomaly (FAVA) with Activating Somatic PIK3CA Mutation

    Case Report of Fibro-Adipose Vascular Anomaly (FAVA) with Activating Somatic PIK3CA Mutation by Jordan H. Driskill, Helena Hwang, Alexandra K. Callan, Dwight Oliver

    Published 2022-01-01
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  8. 8
    A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder

    A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder by Daniel Arbide, Nour Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park

    Published 2024-01-01
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  9. 9
    Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation

    Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation by Afia Hasnain, Laura L. Thompson, Nicole L. Hoppman, Karine Hovanes, Jing Liu, Bita Hashemi

    Published 2024-01-01
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  10. 10
    A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening

    A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening by Melissa A. Hicks, Emilie Lalonde, Jessica Zoladz, Bernard Gonik, Salah Ebrahim

    Published 2023-01-01
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  11. 11
    Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America

    Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America by Emilio Israel Wong-Valenzuela, Daniel San Juan, José Santos Zambrano, Alejandra Camacho Molina, Miguel Angel Morales-Morales, Alejandro Lopez-Landa

    Published 2023-01-01
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  12. 12
    Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay–Barrow/Foar Syndrome)

    Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay–Barrow/Foar Syndrome) by Alessia Mingarelli, Giovanni Battista Pipitone, Giacomo Torini, Maria Grazia Patricelli, Martina Totaro, Clara Colonna, Paola Carrera, Federico Raviglione

    Published 2023-01-01
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  13. 13
    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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  14. 14
    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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  15. 15
    An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome

    An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome by Molly M. Crenshaw, Sharon L. Graw, Dobromir Slavov, Theresa A. Boyle, Daniel G. Piqué, Matthew Taylor, Peter Baker

    Published 2023-01-01
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  16. 16
    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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  17. 17
    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. 18
    Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review

    Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review by Khaliunaa Bayanbold, Georgianne Younger, Benjamin Darbro, Alpa Sidhu

    Published 2023-01-01
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  19. 19
    The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease

    The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease by Mónica Furlano, Elisabet Ars, Anna Matamala, Vicens Brossa, Joan Martí, Maria del Prado-Venegas, Jaume Crespi, Esther Roe, Roser Torra

    Published 2022-01-01
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  20. 20
    4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay

    4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay by Yukino Kawanami, Tomoko Horinouchi, Naoya Morisada, Takeshi Kato, Kandai Nozu

    Published 2023-01-01
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