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52. TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases

53. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.

55. Impact of Right Ventricular Pacing in Patients With TAVR Undergoing Permanent Pacemaker Implantation

56. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

57. Recommendations for whole genome sequencing in diagnostics for rare diseases

58. Access to and quality of elective care: a prospective cohort study using hernia surgery as a tracer condition in 83 countries

59. Patient preferences in genetic newborn screening for rare diseases: study protocol

61. High post-penetrating keratoplasty astigmatism can be mitigated using specialized intrastromal corneal ring segment implants

62. Tumor flare with T-cell-engaging bispecific antibodies

63. Livmoniplimab with or without budigalimab in patients with advanced solid tumors: Results from the combination therapy in the urothelial carcinoma dose expansion cohort.

66. SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.

67. SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.

68. Validation of the ARC-HBR criteria in 68,874 patients undergoing PCI: A systematic review and meta-analysis

69. Sepsis modulates cortical excitability and alters the local and systemic hemodynamic response to seizures

70. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

73. resenha do livro: Studies in the colonial history of Spanish américa

74. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

76. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

79. Assisting the Learning of Clinical Reasoning by Veterinary Medical Learners with a Case Example.

80. Beneficial Effects of IABP in Anterior Myocardial Infarction Complicated by Cardiogenic Shock

86. RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing

88. A comprehensive neuromonitoring approach in a large animal model of cardiac arrest

89. Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.

90. Endoscopic Treatment for Nonhypertrophic Idiopathic Pyloric Stenosis in an Adolescent Patient

92. Atlanti ornitologici, tra successi e fatiche di Sisifo

95. The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

96. Cerebral and systemic hemodynamic effect of recurring seizures

97. Bilateral thyroid adenomas in an alpaca

98. Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy?

100. Adherence of ticagrelOr in real world patients with aCute coronary syndrome: The AD-HOC study

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