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Seite 3 für „Mutation“ · Literaturverweise aus öffentlichen Artikeln
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Prenatal Diagnosis of a Fetus With Congenital Malformations Caused by Compound Heterozygous Mutations in FANCA: A Case Report and Literature Review
pubmed · 42432871
Literaturverweis öffnenPrenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a COL2A1 Missense Mutation
pubmed · 41373627
Literaturverweis öffnenJagged-1 mutation is associated with congenital heart defects: a case report
pubmed · 42093019
Literaturverweis öffnenCFTR Exon 10 deleterious mutations in patients with congenital bilateral absence of vas deferens in a cohort of Pakistani patients
pubmed · 39356031
Literaturverweis öffnenLGMD R18 Mimicking Wilson Disease: 6-Year Longitudinal Muscle MRI Evolution and Clinical Insights into TRAPPC11 Mutation
pubmed · 42279596
Literaturverweis öffnenWHIM syndrome in a child without the classic tetrad: a case confirmed by de novo CXCR4 mutation
pubmed · 41629964
Literaturverweis öffnenSynergistic Contribution of HFE H63D Mutation to Secondary Polycythemia Pathogenesis at Moderate-High Altitude: A Retrospective Cohort Study
pubmed · 42449868
Literaturverweis öffnenA De Novo Mutation (c.2423A>G) in SAMD9 Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese Family
pubmed · 42006147
Literaturverweis öffnenA Case of Nonimmune Hydrops Fetalis With a Duct-Dependent Systemic Circulation and a Novel Mutation of Kabuki Syndrome
pubmed · 42254325
Literaturverweis öffnenA case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation
pubmed · 36966012
Literaturverweis öffnenCHST5 gene mutations contribute to high myopia by disrupting collagen fiber organization
pubmed · 42303058
Literaturverweis öffnenNeuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14
pubmed · 29296614
Literaturverweis öffnenNeutral Lipid Storage Disease with Myopathy: A Case Report with a Novel PNPLA2 Mutation
pubmed · 41622608
Literaturverweis öffnenEvaluating high-risk breast cancer surveillance outcomes in BRCA mutation carriers
pubmed · 41632395
Literaturverweis öffnenCooley's Legacy Endures-Elliptocytes in X-Linked Sideroblastic Anemia Due to Aminolevulinate Synthase 2 Mutations
pubmed · 41925069
Literaturverweis öffnenHBV PreS/S gene mutations in patients with chronic hepatitis B
pubmed · 42498832
Literaturverweis öffnen[Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients]
pubmed · 39397452
Literaturverweis öffnenA Rare Case of Childhood Glaucoma Resulting from Anterior Segment Dysgenesis Associated with a Homozygous Mutation in the CPAMD8 Gene
pubmed · 42074612
Literaturverweis öffnenOverview of skin diseases linked to connexin gene mutations
pubmed · 23675785
Literaturverweis öffnenSevere Hyperandrogenism Revealing a 46,XY Disorder of Sex Development Due to a Novel NR5A1 Mutation
pubmed · 42137683
Literaturverweis öffnenIdentification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review
pubmed · 37644569
Literaturverweis öffnenIdentification of POLA1 gene deep intronic mutation confirms diagnosis of X-linked reticulate pigmentary disorder in a Chinese patient
pubmed · 39635787
Literaturverweis öffnenMutation profile and chromosomal abnormality in adenomyosis
pubmed · 40679511
Literaturverweis öffnenPrime editing of the common Familial Dysautonomia-causing c.2204 + 6T > C splicing mutation
pubmed · 41964038
Literaturverweis öffnenErdheim-Chester disease with recurrent fever, pneumonia, and autoimmune seropositivity for the BRAF V600E mutation
pubmed · 41131784
Literaturverweis öffnenClinicogenomic Landscape of MTAP-Deleted Thoracic Malignancies Across US and Japanese Nationwide Cohorts: Impact of Concurrent CDKN2A Alterations and Driver Mutations
pubmed · 42172559
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