Research Paper (22357)

  • Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl
    Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl

    Maria Grazia Pappalardo

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  • Genetic Variants in Interleukin-10 Gene Association with Susceptibility and Cervical Cancer Development: A Case Control Study
    Genetic Variants in Interleukin-10 Gene Association with Susceptibility and Cervical Cancer Development: A Case Control Study

    Pushpendra D. Pratap

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  • Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence
    Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence

    Masha Kolesnikova

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  • Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing
    Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing

    Ann‐Kathrin Zaum

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  • Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys
    Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys

    Mariem Ben Said

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  • Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB‐type methylmalonic acidemia
    Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB‐type methylmalonic acidemia

    Dagbjört Agnarsdóttir

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  • Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women
    Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women

    Tat‐Thanh Nguyen

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  • High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV
    High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV

    Esra Yıldız Bölükbaşı

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  • Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype
    Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype

    Claudia S. Priglinger

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  • Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
    Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462

    Lauren Brady

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  • Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder
    Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder

    Francesca Cucinotta

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  • Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia
    Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia

    Rai‐Hseng Hsu

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  • Molecular pathogenesis of a novel Met394Thr variant causing hemophilia B
    Molecular pathogenesis of a novel Met394Thr variant causing hemophilia B

    Linna Lu

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  • A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review
    A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review

    Shiyang Gao

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  • Prenatal phenotype of Wolf–Hirschhorn syndrome: A case series and literature review
    Prenatal phenotype of Wolf–Hirschhorn syndrome: A case series and literature review

    Feng Tang

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  • Next‐generation phenotyping in cat‐eye syndrome based on computer‐aided facial dysmorphology analysis of normal photographs
    Next‐generation phenotyping in cat‐eye syndrome based on computer‐aided facial dysmorphology analysis of normal photographs

    Thomas Liehr

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  • A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy
    A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy

    Seung Hoon Lee

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  • Variation at ACOT12 and CT62 locus represents susceptibility to psoriasis in Han population
    Variation at ACOT12 and CT62 locus represents susceptibility to psoriasis in Han population

    Jianxiao Xing

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  • Germline whole genome sequencing in pediatric oncology in Denmark—Practitioner perspectives
    Germline whole genome sequencing in pediatric oncology in Denmark—Practitioner perspectives

    Anna Byrjalsen

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  • Retracted: LncRNA SNHG4 promotes osteosarcoma proliferation and migration by sponging miR‐377‐3p
    Retracted: LncRNA SNHG4 promotes osteosarcoma proliferation and migration by sponging miR‐377‐3p

    Yi‐Feng Huang

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  • Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one‐carbon metabolism networks
    Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one‐carbon metabolism networks

    Paul Hillman

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  • CCN6 mutation detection in Chinese patients with progressive pseudo‐rheumatoid dysplasia and identification of four novel mutations
    CCN6 mutation detection in Chinese patients with progressive pseudo‐rheumatoid dysplasia and identification of four novel mutations

    Yingjie Wang

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  • A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease
    A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease

    France Woimant

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  • Haplotypic diversity and population genetic study of a population in Kashi region by 27 Y‐chromosomal short tandem repeat loci
    Haplotypic diversity and population genetic study of a population in Kashi region by 27 Y‐chromosomal short tandem repeat loci

    Yaoshun Liu

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  • SOX2 mediates cisplatin resistance in small‐cell lung cancer with downregulated expression of hsa‐miR‐340‐5p
    SOX2 mediates cisplatin resistance in small‐cell lung cancer with downregulated expression of hsa‐miR‐340‐5p

    Fei Cui

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  • Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia
    Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia

    Mascha Schönfeld

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  • A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review
    A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review

    Suzan A. AlKhater

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  • Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population
    Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population

    Kazuhiko Takeuchi

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  • The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes
    The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

    Aleksandra Jezela‐Stanek

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  • Construction and evaluation of an efficient C‐Jun siRNA to downregulate matrix metalloproteinase in human keratinocytes and fibroblasts under UV exposure
    Construction and evaluation of an efficient C‐Jun siRNA to downregulate matrix metalloproteinase in human keratinocytes and fibroblasts under UV exposure

    Hong Xiao

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