Gezielt nachschlagen
Suche
Suche startet nach einer kurzen Eingabepause.
Seite 1 für „Mutations“ · Literaturverweise aus öffentlichen Artikeln
Suchtreffer
Quellen in Artikeln
This is Your Thyroid on Drugs: Targetable Mutations and Fusions in Thyroid Carcinoma
pubmed · 42526969
Literaturverweis öffnenCoexisting ADAR and TSHB Mutations in an Infant With Retinal Detachment and Transient Cardiomyopathy
pubmed · 42256321
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 öffnenPrimary hypertrophic osteoarthropathy complicated with myelofibrosis and compound heterozygous SLCO2A1 mutations: a case report and review of literature
pubmed · 42453880
Literaturverweis öffnenA Pilot Study of Sirolimus in Subjects with Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN
pubmed · 31350329
Literaturverweis öffnenFrom Germline Susceptibility to Therapeutic Vulnerability: DNA Damage Response Gene Mutations Driving Multiple Myeloma Evolution and Precision Therapy
pubmed · 42317213
Literaturverweis öffnenBiallelic GTF3A mutations underline a novel human combined immunodeficiency
doi · 10.64898/2026.07.24.26358408
Literaturverweis öffnenAntenatal management of HNF4A-MODY and INSR mutations in pregnancy
pubmed · 42064724
Literaturverweis öffnenBiallelic FOXRED1 mutations cause infantile mitochondrial encephalopathy with complex I disassembly and basal ganglia degeneration
pubmed · 41412221
Literaturverweis öffnenCongenital Lactase Deficiency: Mutations, Functional and Biochemical Implications, and Future Perspectives
pubmed · 30813293
Literaturverweis öffnenGuanine to adenine mutations in patients with lattice corneal dystrophy
pubmed · 10429500
Literaturverweis öffnenAutosomal Dominant PKD in Patients With PKD2 Mutations-A Benign Disorder?
pubmed · 28941485
Literaturverweis öffnenMutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
pubmed · 27866708
Literaturverweis öffnenADAMTS and ADAMTSL mutations in connective tissue disorders
pubmed · 41915433
Literaturverweis öffnenHBV PreS/S gene mutations in patients with chronic hepatitis B
pubmed · 42498832
Literaturverweis öffnenMutations paternelles de GNAS : quels phénotypes ? Quel conseil génétique ?
pubmed · 25952723
Literaturverweis öffnenHereditary sideroblastic anemia: pathophysiology and gene mutations
pubmed · 20848343
Literaturverweis öffnenCFTR Exon 10 deleterious mutations in patients with congenital bilateral absence of vas deferens in a cohort of Pakistani patients
pubmed · 39356031
Literaturverweis öffnenCHST5 gene mutations contribute to high myopia by disrupting collagen fiber organization
pubmed · 42303058
Literaturverweis öffnenCooley's Legacy Endures-Elliptocytes in X-Linked Sideroblastic Anemia Due to Aminolevulinate Synthase 2 Mutations
pubmed · 41925069
Literaturverweis öffnen[Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients]
pubmed · 39397452
Literaturverweis öffnenOverview of skin diseases linked to connexin gene mutations
pubmed · 23675785
Literaturverweis öffnenIdentification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review
pubmed · 37644569
Literaturverweis öffnenClinicogenomic Landscape of MTAP-Deleted Thoracic Malignancies Across US and Japanese Nationwide Cohorts: Impact of Concurrent CDKN2A Alterations and Driver Mutations
pubmed · 42172559
Literaturverweis öffnen