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Seite 3 für „Mut“ · Literaturverweise aus öffentlichen Artikeln
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Case Report: Homozygous KISS1R mutation associated with congenital hypogonadotropic hypogonadism in two siblings: pulsatile GnRH therapy restores pituitary architecture and induces pubertal development
pubmed · 42145763
Literaturverweis öffnenA case report of congenital sideroblastic anemia caused by a novel ALAS2 mutation in conjunction with thalassemia
pubmed · 41961321
Literaturverweis öffnenUnmasking Balamuthia mandrillaris Through PCR in a Case of Multifocal Brain Lesions
pubmed · 42255986
Literaturverweis öffnen[Studies on the possible mutagenic effect of fusel oil].
pubmed · 5401485
Literaturverweis öffnenADAMTS and ADAMTSL mutations in connective tissue disorders
pubmed · 41915433
Literaturverweis öffnenA novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation
pubmed · 29501407
Literaturverweis öffnenDe novo twig-like middle cerebral artery after suspected M1 dissection in early childhood with coexisting KRAS-mutated brain arteriovenous malformation: illustrative case
pubmed · 41941829
Literaturverweis öffnenFunctional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy
pubmed · 25273674
Literaturverweis öffnenComprehensive genomic profiling and tumor mutational burden in parathyroid carcinoma: a nationwide real-world study from Japan
pubmed · 42455276
Literaturverweis öffnenExpanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency
pubmed · 42115487
Literaturverweis öffnenAssociation of BRCA Mutation Status with Clinical Outcomes in High-Grade Serous Ovarian Cancer
pubmed · 42121636
Literaturverweis öffnen[Toxicity and mutagenicity of single fusel oil components on E. coli].
pubmed · 4912423
Literaturverweis öffnen17α-hydroxylase deficiency in a 46,XY individual with a hypoplastic uterus: In vitro functional validation of a CYP17A1 mutation
pubmed · 42462819
Literaturverweis öffnenHBV PreS/S gene mutations in patients with chronic hepatitis B
pubmed · 42498832
Literaturverweis öffnenPrevalence, Timing and Mutual Relationships of Acute and Chronic Respiratory Failure in People with Chronic Obstructive Pulmonary Disease
pubmed · 42513509
Literaturverweis öffnen[The statistical inclusion of exogenous cases in simple recessive heredity with application to recessive deaf-mutism].
pubmed · 5899907
Literaturverweis öffnenAnalysis of zinc oxide nanoparticles as a potential mutagen of respiratory epithelia
doi · 10.25358/openscience-1278
Literaturverweis öffnenTen-year clinical course of familial lecithin-cholesterol acyltransferase deficiency caused by Cys74Tyr mutation leading to dialysis and multiple systemic complications: a case report
pubmed · 42159827
Literaturverweis öffnenThe Great Imitator: A Case Report of Mirizzi Syndrome Misdiagnosed as Cholangiocarcinoma Bismuth Type II
pubmed · 42222245
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 öffnenMutations paternelles de GNAS : quels phénotypes ? Quel conseil génétique ?
pubmed · 25952723
Literaturverweis öffnenNeonatal Diabetes Mellitus Due to Homozygous ZNF808 Mutation Associated With Skeletal Anomalies: A Novel Presentation of Pancreatic Agenesis-3
pubmed · 41809312
Literaturverweis öffnenJagged-1 mutation is associated with congenital heart defects: a case report
pubmed · 42093019
Literaturverweis öffnenTP53 mutation landscape and patient survival in oral squamous cell carcinoma
pubmed · 41980118
Literaturverweis öffnenHereditary sideroblastic anemia: pathophysiology and gene mutations
pubmed · 20848343
Literaturverweis öffnenFrom wheelchair to walking: first reported case in Saudi Arabia of transformative orthopedic surgery in a patient with spondyloepimetaphyseal dysplasia with joint laxity type 3 due to EXOC6B mutation-a case report
pubmed · 42231408
Literaturverweis öffnenHomozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans
pubmed · 39503780
Literaturverweis öffnenPrenatal Diagnosis of a Fetus With Congenital Malformations Caused by Compound Heterozygous Mutations in FANCA: A Case Report and Literature Review
pubmed · 42432871
Literaturverweis öffnen