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Seite 2 für „Mutation“ · Literaturverweise aus öffentlichen Artikeln
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Guanine to adenine mutations in patients with lattice corneal dystrophy
pubmed · 10429500
Literaturverweis öffnenRevealing the role of a novel IDS gene mutation in mucpolysaccharidosis type II: insights from computational analysis
pubmed · 42005589
Literaturverweis öffnenClinical Features and Gene Mutation of Neonatal Seizures
pubmed · 42452325
Literaturverweis öffnenAutosomal Dominant PKD in Patients With PKD2 Mutations-A Benign Disorder?
pubmed · 28941485
Literaturverweis öffnenReproductive medicine care in BRCA mutation carriers: an opportunity for early intervention
pubmed · 42027655
Literaturverweis öffnenComprehensive genomic profiling and tumor mutational burden in parathyroid carcinoma: a nationwide real-world study from Japan
pubmed · 42455276
Literaturverweis öffnenPCSK9 rs562556 variant and survival in BRCA1 mutation carriers and mutation-negative familial breast cancer
pubmed · 42297814
Literaturverweis öffnenHereditäre Pankreatitis - Mutationen im kationischen Trypsinogen-Gen: Ein Modell für die Pathogenese der nicht-hereditären akuten und chronischen Pankreatitis?
pubmed · 9424425
Literaturverweis öffnenA Rare Case of Partial Peripheral Thyroid Hormone Resistance Due to a Point Mutation in the Membrane Integrin Α(V)Β(3) and Concomitant Hashimoto`s Thyroiditis
pubmed · 31406543
Literaturverweis öffnenMutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
pubmed · 27866708
Literaturverweis öffnenCase 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 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 öffnenFunctional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy
pubmed · 25273674
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 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 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 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 öffnen