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AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Rivista
Codice:
E190195
ISSN:
1552-4825
Dati Generali
Dati Generali
Pubblicazioni (31)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A PUS7 gene pathogenic variant causing self‐injurious behavior, sleep disturbances, and developmental delay: A case report
Articolo
A newly recognized autosomal recessive syndrome with abnormal vertebral ossification, rib abnormalities, and nephrogenic rests
Articolo
ACOX1 gain‐of‐function variation in a 10‐years‐old patient responsive to immunomodulating therapy
Articolo
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene
Articolo
Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6)
Articolo
Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker
Articolo
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Articolo
Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features
Articolo
Delineation of Ehlers–Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review
Articolo
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA
Articolo
Exclusion of candidate genes in a family with arterial tortuosity syndrome
Articolo
Expanding CEP290 mutational spectrum in ciliopathies
Articolo
Familial Ohtahara syndrome due to a novel ARX gene mutation
Articolo
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review
Articolo
Grange syndrome: an identifiable cause of stroke in young adults.
Articolo
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients
Articolo
Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype
Articolo
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain
Articolo
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center
Articolo
Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach
Articolo
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review
Articolo
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome.
Articolo
Progressive external ophthalmoplegia: A new family with tremor and peripheral neuropathy [1]
Articolo
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type
Articolo
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type
Articolo
Spontaneous Coronary Artery Dissection in a YoungWoman With Loeys–Dietz Syndrome
Articolo
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.
Articolo
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: Further delineation of the phenotype
Articolo
Towards improved clinical characterization of Leber congenital amaurosis: neurological and systemic findings.
Articolo
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity sindrome
Articolo
X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations: A New Family and Review of the Literature
Articolo
No Results Found
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