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28 angezeigte Treffer · Seite 2, keine Gesamtzahl für „familial“ · Literaturverweise aus öffentlichen Artikeln
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11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation
pubmed · 37475652
Literaturverweis öffnenClinical presentations of familial sarcoidosis: a retrospective cohort study from Finland
pubmed · 42481410
Literaturverweis öffnenFamilial Turner Syndrome With Distinct Karyotypes in Two Cousins: Phenotypic Convergence and Genotypic Heterogeneity
pubmed · 42108647
Literaturverweis öffnenA Case of Familial Mediterranean Fever Diagnosed After Oral Administration of a Gonadotropin-Releasing Hormone (GnRH) Antagonist
pubmed · 41393686
Literaturverweis öffnenIdentification of EPOR and JAK2 double heterozygous variants in twin cases with familial erythrocytosis
pubmed · 39671116
Literaturverweis öffnen[Familial hyperlipoproteinemia type III].
pubmed · 185039
Literaturverweis öffnenPrevalence of Familial Melanoma Genes and Cancer Risk Among Genomically Ascertained Individuals
pubmed · 42201696
Literaturverweis öffnenTownes-Brocks Syndrome as Familial Isolated Bilateral Cup Ear Deformity: A Case Report
pubmed · 42338547
Literaturverweis öffnenCase report: co-inheritance of familial lecithin-cholesterol acyltransferase deficiency and α⁰-Thalassemia
pubmed · 42080096
Literaturverweis öffnenA Novel BIRC6 Variant Impairs Apoptotic Regulation in Familial Premature Ovarian Insufficiency: Functional Validation in a CRISPR/Cas9 Zebrafish Model
pubmed · 42082826
Literaturverweis öffnen[Familial tooth position anomalies in the Orangutang. Orthodontic, cytogenetic and anthropological studies].
pubmed · 6576969
Literaturverweis öffnenFamilial erythrocytosis and phenotypic heterogeneity associated with different defects in alpha globin genes: a significant new case of Hb Wroclaw (α88(F9) Ala>Glu; HBA1: c.266C>A)
pubmed · 41622866
Literaturverweis öffnenPrenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result
pubmed · 34247824
Literaturverweis öffnenFamilial exudative vitreoretinopathy associated with persistence of hyaloid artery
pubmed · 18401292
Literaturverweis öffnenRecognizing Familial Thyroid Neoplasia: The Pathologist's Role in Diagnosis and Management
pubmed · 42319956
Literaturverweis öffnenFamilial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin
pubmed · 17509110
Literaturverweis öffnenFamilial lymphoma and genetic predisposition: an updated review
pubmed · 42316213
Literaturverweis öffnenChallenges in functional validation and mechanistic interpretation of a novel LACC1 variant in familial juvenile arthritis
pubmed · 41736164
Literaturverweis öffnenThe Genetics of Familial Neoplastic Thyroid Disease and Primary Hyperparathyroidism
pubmed · 42419309
Literaturverweis öffnenSitosterolemia misdiagnosed as homozygous familial hypercholesterolemia: A diagnostic challenge
pubmed · 42403461
Literaturverweis öffnenPrime editing of the common Familial Dysautonomia-causing c.2204 + 6T > C splicing mutation
pubmed · 41964038
Literaturverweis öffnenA Novel GATA2 Splice-Site Mutation Associated with Familial Myelodysplastic Syndrome
pubmed · 42384008
Literaturverweis öffnenFamilial Angiolipomatosis: A Report of Two Cases and Review of Clinicopathologic Features, Diagnostic Considerations, and Management Challenges in an Underserved Population
pubmed · 42292726
Literaturverweis öffnenProteomic profiling of Elp1-deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model
pubmed · 42108717
Literaturverweis öffnenFamilial cluster of cutaneous anthrax in North Khorasan, Iran: A case series and public health reflection
pubmed · 41438348
Literaturverweis öffnenFamilial risks in prostate cancer between brothers and half-brothers as clues to germline genetic and environmental causes
pubmed · 42113346
Literaturverweis öffnen[Familial erythrocytosis type 2 due to VHL germline mutations: a case report and literature review]
pubmed · 40059686
Literaturverweis öffnenHeterozygous, germline JAK2 E846D substitution as the cause of familial erythrocytosis
pubmed · 35764421
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