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Seite 1 für „Deletion“ · Literaturverweise aus öffentlichen Artikeln
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EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: State of the art 2023
pubmed · 37674303
Literaturverweis öffnenMuskuläre Hypotonie, Entwicklungsretardierung, Sprachentwicklungsstörung und geringgradige Dysmorphiezeichen: 22q13-Deletions-Syndrom (Phelan-McDermid-Syndrom) als wichtige Differenzialdiagnose
pubmed · 18814345
Literaturverweis öffnenWorsened axonal injury and gliosis following diffuse brain injury in male and female mice with neurofilament light gene deletion
pubmed · 41135688
Literaturverweis öffnenTransient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous TRPV6 Deletion
pubmed · 41885138
Literaturverweis öffnenMetachronous multiple insulinomas in oculo-facio-cardio-dental syndrome harboring a novel BCOR deletion: a case report with review of literature
pubmed · 42324136
Literaturverweis öffnen1q25.3-q32.1 deletion causing multisystem developmental delay: a case report and literature review
pubmed · 42358573
Literaturverweis öffnenNeuron-specific deletion of ADAR1 induces brain malformation and early postnatal lethality
pubmed · 42400013
Literaturverweis öffnenA novel frameshift deletion in SLC25A38 and its role in mitochondrial dysfunction: A case study of sideroblastic anemia in a child from Iran
pubmed · 41714435
Literaturverweis öffnenDeletion of decay-accelerating factor in kidney tubular cells mitigates kidney fibrosis in aristolochic acid nephropathy
pubmed · 42412640
Literaturverweis öffnenClinical and genetic analysis of a phenotypically normal three-generation family carrying 10.884 Mb deletions at 13q21.1q21.32
pubmed · 42362274
Literaturverweis öffnenCongenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia
pubmed · 39293448
Literaturverweis öffnenPrognostic impact of monosomy 13 and deletion of 13q in multiple myeloma patients undergoing upfront autologous transplantation
pubmed · 42494235
Literaturverweis öffnenFrequency of venous thrombotic events in patients with myelodysplastic syndrome and 5q deletion syndrome during lenalidomide therapy
pubmed · 30334068
Literaturverweis öffnenITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome
pubmed · 41325768
Literaturverweis öffnenInterstitial deletion del(10)(q25.2q25.3 ∼ 26.11)—case report and review of the literature
pubmed · 16088867
Literaturverweis öffnenContiguous Gene Deletion Involving COL4A1 and COL4A2 in a Patient with Thin Basement Membrane Nephropathy: A Case Report
pubmed · 41269897
Literaturverweis öffnen11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation
pubmed · 37475652
Literaturverweis öffnen17q12 deletion syndrome presenting with chronic pancreatitis: a case report
pubmed · 42063794
Literaturverweis öffnenMucopolysaccharidosis type II in tunisian families: IDS gene variations disrupting substrate binding and a novel deep intronic deletion reducing IDS expression
pubmed · 42489956
Literaturverweis öffnenClinicopathologic features of systemic ALK-negative anaplastic large cell lymphoma with TP53 deletion
pubmed · 42244395
Literaturverweis öffnenEllis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the EVC Gene
pubmed · 40475170
Literaturverweis öffnenCombination of 15q24 Microdeletion Syndrome and Metabolic Imbalance in a Patient with Atypical Autism
pubmed · 38180598
Literaturverweis öffnen22q11.2 deletion syndrome and congenital heart disease
pubmed · 32049433
Literaturverweis öffnenClinical and Biological Insights into Myelodysplastic Neoplasms Associated with Deletions of Chromosome 5q Region
pubmed · 41440765
Literaturverweis öffnen22q11.2 Deletion Syndrome.
pubmed · 20301696
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