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  1. 421
    PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication

    PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication by Angelika J. Dawson, Janice Cox, Karine Hovanes, Elizabeth Spriggs

    Published 2015-01-01
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  2. 422
    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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  3. 423
    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
    “…We describe a homozygous pathogenic variant in the DNAJC19 gene, diagnosed in Northern Greece, presenting with genital anomalies, growth failure, cardiomyopathy, and ataxia, but without increased urinary 3-methylglutaconic acid and additional presence of vitamin D disorders, hypercalciuria, and osteopenia. This case not only expands the clinical characteristics of 3-methylglutaconic aciduria type V (MGCA5) but also highlights the power of genetic analysis for detecting a diagnosis when the metabolic screen is negative.…”
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  4. 424
    A New Case of dic(1;15)(p11;p11) in AML M1: Apropos of a Case and a Review of the Literature

    A New Case of dic(1;15)(p11;p11) in AML M1: Apropos of a Case and a Review of the Literature by Deniz Gören Şahin, Beyhan Durak, Eren Gündüz, Sevilhan Artan, Olga Meltem Akay

    Published 2013-01-01
    “…Acute myelogenous leukemia (AML) develops as the consequence of a series of genetic changes in a hematopoietic precursor cell. …”
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  5. 425
    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
    “…This report confirms that early diagnosis and accurate study of genomic disorders are very important, enabling proper genetic counselling of the reproductive risk, as well as disease prognosis and patient management.…”
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  6. 426
    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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  7. 427
    The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation

    The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation by Krishna Gundabolu, Bhavana J. Dave, Carmelita J. Alvares, Jeffrey J. Cannatella, Vijaya R. Bhatt, Lori J. Maness, Zaid S. Al-Kadhimi, Rana K. Zabad, Allison M. Cushman-Vokoun

    Published 2022-01-01
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  8. 428
    Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20

    Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20 by Thiago Corrêa, Amanda Cristina Venâncio, Marcial Francis Galera, Mariluce Riegel

    Published 2020-01-01
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  9. 429
    A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype

    A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype by Hiroyuki Iijima, Yuko Tsujioka, Yoshiyuki Tsutsumi, Gen Nishimura, Yasushi Okazaki, Kei Murayama, Mitsuru Kubota, Akira Ohtake

    Published 2025-03-01
    “…Conclusion: The skeletal phenotype may be a syndromic component of this disorder associated with MARS2 intragenic variants.…”
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  10. 430
    Clinicopathological features of Lynch syndrome pedigrees with MSH2 c.351G>A gene variant

    Clinicopathological features of Lynch syndrome pedigrees with MSH2 c.351G>A gene variant by Shuai Zhang, Guanyu Fu, Gongping Sun, Yuanxin Tang, Jin Meng, Zhigang Wang, Rongjun Su, Wei Liu, Xiaoxia Li

    Published 2025-01-01
    “…Abstract Background Lynch syndrome (LS) is an autosomal‐dominant disorder that increases the risk of many cancers. To identify novel or rare pathogenic variants of MMR genes associated with LS, especially in Chinese pedigrees. …”
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  11. 431
    A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review

    A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review by Ying Yang, Liqing Chen, Zhenzhen Wang, Yaling Ding, Yan Liu

    Published 2025-01-01
    “…ABSTRACT Background Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder. Although individuals with variants in the SMC1A gene are less commonly seen in CdLS, they exhibit a high incidence of epilepsy and atypical phenotypic variability. …”
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  12. 432
    Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3

    Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3 by Haixia Zheng, Chongsheng Cheng, Miao He, Wangji Zhou, Yixuan Li, Jinrong Dai, Ting Zhang, Kai‐Feng Xu, Xue Zhang, Xinlun Tian, Yaping Liu

    Published 2025-01-01
    “…ABSTRACT Background Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. …”
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  13. 433
    Integrative transcriptome profiling for identifying ALS potential treatment using the drug repurposing approach

    Integrative transcriptome profiling for identifying ALS potential treatment using the drug repurposing approach by Navid Kashani, Amir Sabbaghian, Fatemeh EmamiPari, Mohammad Khalili Gorjimahalleh, Mahdi Aalikhani

    Published 2025-01-01
    “…Abstract Background Amyotrophic lateral sclerosis (ALS), an alarming neurodegenerative disorder, induces muscle atrophy and motor deterioration. …”
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  14. 434
    RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis

    RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis by Qian Liu, Feifei Li, Qin Ruan, Nana Wang, Zhengjun Fan

    Published 2025-01-01
    “…ABSTRACT Background Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of brain disorders. Variants in the Rho‐related BTB domain‐containing 2 gene (RHOBTB2) can lead to DEE64, which is characterized by early‐onset epilepsy, varying degrees of motor developmental delay and intellectual disability, microcephaly, and movement disorders. …”
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  15. 435
    Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants

    Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants by Amit Singh, Mahak Garg, Mohammed Shariq, Preeti Khetarpal, Inusha Panigrahi

    Published 2025-01-01
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  16. 436
    Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention

    Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention by Meir Lotan, Bruria Ben-Zeev

    Published 2006-01-01
    “…Rett syndrome (RS) is a genetic disorder affecting mainly females. In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome. …”
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  17. 437
    Essentials of Pediatric Nursing /

    Essentials of Pediatric Nursing / by Kyle, Terri

    Published 2013
    Table of Contents: “…Nursing care of the child with a cardiovascular disorder -- Nursing care of the child with a gastrointestinal disorder -- Nursing care of the child with a genitourinary disorder -- Nursing care of the child with a neuromuscular disorder -- Nursing care of the child with a musculoskeletal disorder -- Nursing care of the child with an integumentary disorder -- Nursing care of the child with a hematologic disorder -- Nursing care of the child with an immunologic disorder -- Nursing care of the child with an endocrine disorder -- Nursing care of the child with a neoplastic disorder -- Nursing care of the child with a genetic disorder -- Nursing care of the child with a cognitive or mental health disorder -- Nursing care during a pediatric emergency.…”
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  18. 438
    Pediatric Nursing / A case Based Approach

    Pediatric Nursing / A case Based Approach by Tagher, Catherine Gannon

    Published 2024
    Table of Contents: “…Nursing care of the child with a cardiovascular disorder -- Nursing care of the child with a gastrointestinal disorder -- Nursing care of the child with a genitourinary disorder -- Nursing care of the child with a neuromuscular disorder -- Nursing care of the child with a musculoskeletal disorder -- Nursing care of the child with an integumentary disorder -- Nursing care of the child with a hematologic disorder -- Nursing care of the child with an immunologic disorder -- Nursing care of the child with an endocrine disorder -- Nursing care of the child with a neoplastic disorder -- Nursing care of the child with a genetic disorder -- Nursing care of the child with a cognitive or mental health disorder -- Nursing care during a pediatric emergency.…”
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  19. 439
    Late Onset Atypical Pantothenate-Kinase-Associated Neurodegeneration

    Late Onset Atypical Pantothenate-Kinase-Associated Neurodegeneration by Natalie Diaz

    Published 2013-01-01
    “…Although PKAN is a rare genetic disorder most commonly seen in childhood, it should be considered in adult patients with a history of progressive focal dystonia or atypical Parkinsonism. …”
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  20. 440
    Optimasi Fuzzy C-Means dan K-Means Menggunakan Algoritma Genetika untuk Pengklasteran Dataset Diabetic Retinopathy

    Optimasi Fuzzy C-Means dan K-Means Menggunakan Algoritma Genetika untuk Pengklasteran Dataset Diabetic Retinopathy by Muhammad Ezar Al Rivan, Steven Steven, William Tanzil

    Published 2020-10-01
    “…Based on the comparison of Genetic Algorithm  Fuzzy C-Means and Genetic Algorithm K-Means iterations, it can be concluded that Genetic Algorithm Fuzzy C-Means has a better number of iteration than Genetic Algorithm K-Means. …”
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