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Congenital Hypoglossia With Craniofacial Anomalies Without Limb Defects: A Rare Phenotypic Variant of Oromandibular-Limb Hypogenesis Syndrome
pubmed · 42440826
Literaturverweis öffnenVarianten der Geschlechtsentwicklung in der Frauenheilkunde
doi · 10.1007/s10304-020-00358-3
Literaturverweis öffnenSolid Variant Aneurysmal Bone Cyst of the Trapezoid Bone: A Case Report
pubmed · 41866934
Literaturverweis öffnenVariant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma
pubmed · 28561224
Literaturverweis öffnenA novel XIAP variant in a patient with hydrops fetalis: HSCT and beyond?
pubmed · 41998580
Literaturverweis öffnenFirst neonatal case of primary ciliary dyskinesia caused by a pathogenic DRC1 variant presenting with recurrent atelectasis and airway hypersecretion: a case report and literature review
pubmed · 42185991
Literaturverweis öffnenIdentification of a Novel Pathogenic Variant in the PHEX Gene and Its Mechanistic Implications in X-Linked Hypophosphatemia
doi · 10.21203/rs.3.rs-9495431/v1
Literaturverweis öffnenBlood-Based Analysis of Different Tau Variants in Patients With Multiple Traumatic Injuries
pubmed · 41665901
Literaturverweis öffnenBlended Phenotype Involving FBN1 and Novel PIGL Variants of Uncertain Significance: A Prenatal Case Report
pubmed · 42377900
Literaturverweis öffnenTracheal computed tomography radiomics model for prediction of the Omicron variant of severe acute respiratory syndrome coronavirus 2
pubmed · 38446170
Literaturverweis öffnenResistant Hypertension Variants Link to Hyperaldosteronism and Potassium Levels
pubmed · 42422974
Literaturverweis öffnenA de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse
pubmed · 41136527
Literaturverweis öffnenAllergene - Auslöser der verschiedenen Allergievarianten
pubmed · 35340910
Literaturverweis öffnenConsensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
pubmed · 31160754
Literaturverweis öffnenCongenital Alopecia and Cataracts Associated With a Novel EBP Variant: A Phenocopy of Lanosterol Synthase Deficiency
pubmed · 40958446
Literaturverweis öffnenIntraoperative Iliac Artery Dissection and Postoperative Cerebral Infarction in a Kidney Transplant Recipient With an RNF213 p.R4810K Variant: A Case Report
pubmed · 42144299
Literaturverweis öffnenGenetic Analysis of Isolated Hepatic Ductal Plate Malformation Reveals Novel Variants and Insights into Phenotypic Correlation
pubmed · 42365546
Literaturverweis öffnenA novel de novo MECOM frameshift variant presenting with early fetal edema and cardiac anomalies: a case report with literature review
doi · 10.21203/rs.3.rs-9661191/v1
Literaturverweis öffnenComment on: Lin et al. (2007) <i>SUMO4</i> M55V Variant Is Associated With Diabetic Nephropathy in Type 2 Diabetes: <i>Diabetes</i> 56:1177–1180
pubmed · 17660269
Literaturverweis öffnenA Young Woman With Ulcerative Colitis Presenting With Facial Diplegia, a Variant of Guillain-Barré Syndrome
pubmed · 42143401
Literaturverweis öffnenAtypical Follicular-Pigmentary Variant of Hailey-Hailey Disease: A Diagnostic Dilemma
pubmed · 42359115
Literaturverweis öffnenCongenital Variants and Anomalies of the Aortic Arch
pubmed · 27860551
Literaturverweis öffnenPhenotype-Driven Whole-Exome Sequencing Reanalysis Identifies a Homozygous PPP2R3C Variant in Syndromic 46,XY and 46,XX Gonadal Dysgenesis: Case Report and Review of the Literature
pubmed · 42445464
Literaturverweis öffnenPCG with biallelic CYP1B1 and CPAMD8 variants: a longitudinal case report
pubmed · 42528638
Literaturverweis öffnenCase Report: The compound heterozygotes variants in FLT4 causes autosomal recessive hereditary lymphedema in a Chinese family
pubmed · 37035731
Literaturverweis öffnen[On the history of the concept neurasthenia and its modern variants chronic-fatigue-syndrome, fibromyalgia and multiple chemical sensitivities].
pubmed · 12410427
Literaturverweis öffnenSchimke immunoosseous dysplasia (SIOD): Delayed onset of rare disease and novel variant
pubmed · 41953243
Literaturverweis öffnenGastrointestinal Pseudo-Obstruction Is Not an Uncommon Phenotypic Manifestation of POLG1 Variants
pubmed · 42223171
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