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Papers in Case Reports in Genetics

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  1. A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental DisorderCase Reports in Genetics · 2024
  2. A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy CaseCase Reports in Genetics · 2024
  3. A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation AnalysisCase Reports in Genetics · 2024
  4. Quadruple Primary Malignancies over 2 Years with Germline Mutation in Krebs Cycle Enzyme Gene Fumarate HydrataseCase Reports in Genetics · 2024
  5. A Fatal Case of 3‐Hydroxyisobutyryl‐CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the LiteratureCase Reports in Genetics · 2024
  6. Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case AnalysisCase Reports in Genetics · 2024
  7. Generalized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the ACVR1 Gene (R206H)Case Reports in Genetics · 2024
  8. Phenotype‐Genotype Discordance and a Case of a Disorder of Sexual DifferentiationCase Reports in Genetics · 2024
  9. A Novel SPAST Variant Associated with Isolated Spastic ParaplegiaCase Reports in Genetics · 2023
  10. A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA ScreeningCase Reports in Genetics · 2023
  11. A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH LevelsCase Reports in Genetics · 2023
  12. Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature ReviewCase Reports in Genetics · 2023
  13. A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and DyskinesiaCase Reports in Genetics · 2023
  14. Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile HydrocephalusCase Reports in Genetics · 2023
  15. A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic VariantCase Reports in Genetics · 2023
  16. Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and EncephaloceleCase Reports in Genetics · 2023
  17. A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1Case Reports in Genetics · 2023
  18. A Case of Pallister–Killian Syndrome in a NewbornItalian Journal of Gynaecology and Obstetrics · 2023
  19. The Benefits of Early versus Late Therapeutic Intervention in Fabry DiseaseCase Reports in Genetics · 2022
  20. Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare CaseCase Reports in Genetics · 2022
  21. BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene DeletionCase Reports in Genetics · 2022
  22. An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and PyridoxineCase Reports in Genetics · 2022
  23. Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical PhenotypesCase Reports in Genetics · 2022
  24. Case Report of Fibro-Adipose Vascular Anomaly (FAVA) with Activating Somatic PIK3CA MutationCase Reports in Genetics · 2022
  25. De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer SyndromeCase Reports in Genetics · 2022
  26. Pitfalls in Genetic Testing for Consanguineous Pediatric PopulationsCase Reports in Genetics · 2022
  27. Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic VariantCase Reports in Genetics · 2022
  28. Microdeletion of 4p16.2 in Children: A Case Report and Literature ReviewCase Reports in Genetics · 2022
  29. Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia LentisCase Reports in Genetics · 2022
  30. The Efficacy of Anti-Tumor Necrosis Factor Therapy in Cryopyrin-Associated Periodic Syndromes: A Report of Two CasesCase Reports in Genetics · 2022
  31. Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the LiteratureCase Reports in Genetics · 2022
  32. A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST GeneCase Reports in Genetics · 2021
  33. Delayed Diagnosis of McCune–Albright SyndromeCase Reports in Genetics · 2021
  34. Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA DepletionCase Reports in Genetics · 2021
  35. Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-IndiansCase Reports in Genetics · 2021
  36. The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the LiteratureCase Reports in Genetics · 2021
  37. A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye SyndromeCase Reports in Genetics · 2021
  38. A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson’s Disease with DementiaCase Reports in Genetics · 2020
  39. Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO MutationCase Reports in Genetics · 2020
  40. Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric TumorsCase Reports in Genetics · 2020
  41. A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis PhenotypeCase Reports in Genetics · 2020
  42. Novel Mutations in Pilomatrixoma, CTNNB1 p.s45F, and FGFR2 p.s252L: A Report of Three Cases Diagnosed by Fine-Needle Aspiration Biopsy, with Review of the LiteratureCase Reports in Genetics · 2020
  43. “Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical CaseCase Reports in Genetics · 2020
  44. Managing Sleep and Behavioral Problems in a Preschooler with SATB2-Associated SyndromeCase Reports in Genetics · 2020
  45. Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural AnomaliesCase Reports in Genetics · 2020
  46. Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the LiteratureCase Reports in Genetics · 2020
  47. Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular ModelingCase Reports in Genetics · 2020
  48. Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi BoyCase Reports in Genetics · 2020
  49. A Tanzanian Boy with Molecularly Confirmed X‐Linked AdrenoleukodystrophyCase Reports in Genetics · 2019
  50. Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further CaseCase Reports in Genetics · 2019