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Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit
Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit
Lymphangioleiomyomatosis (LAM) is common in tuberous sclerosis complex (TSC) yet under recognised with management mostly b...
Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome
Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by SHANK3 haploinsufficiency with clinical manifest...
Clinicopathological features and surgical procedures of adnexal masses with abdominal pain in pediatric and adolescent patients
Clinicopathological features and surgical procedures of adnexal masses with abdominal pain in pediatric and adolescent patients
This study investigated the clinicopathological features and surgical procedures of adnexal masses with abdominal pain in ...
Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
Advancements in genetic testing have led to Usher syndrome now being diagnosed at a much earlier age than in the past, ena...
Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)
Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)
Adrenoleukodystrophy (ALD) is a multifaceted, X-linked, neurodegenerative disorder that comprises several clinical phenoty...
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia
Idiopathic infantile hypercalcemia (IIH) is a rare disorder of PTH-independent hypercalcemia. CYP24A1 and SLC34A1 gene mut...
The parent and family impact of CLN3 disease: an observational survey-based study
The parent and family impact of CLN3 disease: an observational survey-based study
CLN3 disease (also known as CLN3 Batten disease or Juvenile Neuronal Ceroid Lipofuscinosis) is a rare pediatric neurodegen...
Substance use disorder of equimolar oxygen-nitrous oxide mixture in French sickle-cell patients: results of the PHEDRE study
Substance use disorder of equimolar oxygen-nitrous oxide mixture in French sickle-cell patients: results of the PHEDRE study
In many countries, nitrous oxide is used in a gas mixture (EMONO) for short-term analgesia. Cases of addiction, with signi...
De novo variants of IRF2BPL result in developmental epileptic disorder
De novo variants of IRF2BPL result in developmental epileptic disorder
Pathogenic variants of the IRF2BPL gene have been reported to cause neurodevelopmental disorders; however, studies focused...
Lymphatic drainage of sinonasal malignancies and the role of sentinel node biopsies
Lymphatic drainage of sinonasal malignancies and the role of sentinel node biopsies
Locoregional recurrence is a critical factor in the prognosis of sinonasal malignancies. Due to the rarity of these tumour...
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies
Pathogenic missense variants in the dystrophin (DMD) gene are rarely reported in dystrophinopathies. Most DMD missense var...
COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the m...
The impact of amplification on quality of life in women with Turner syndrome
The impact of amplification on quality of life in women with Turner syndrome
Individuals with Turner syndrome (TS, ORPHA 881) experience barriers in communication throughout life as they navigate bot...
Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry
Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry
Hypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase...
Neurobehavioral and developmental profiles: genotype–phenotype correlations in individuals with Cornelia de Lange syndrome
Neurobehavioral and developmental profiles: genotype–phenotype correlations in individuals with Cornelia de Lange syndrome
Cornelia de Lange (CdLS) is a rare genetic disorder that affects most body systems. Variants in multiple genes including N...
Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1
Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1
As the most common subtype of adult muscular dystrophy worldwide, large cohort reports on myotonic dystrophy type I (DM1) ...
Patients’ and physicians’ awareness of clinical symptoms and disease severity in tuberous sclerosis complex
Patients’ and physicians’ awareness of clinical symptoms and disease severity in tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Cl...
The health-care utilization and economic burden in patients with genetic skeletal disorders
The health-care utilization and economic burden in patients with genetic skeletal disorders
Most genetic skeletal disorders (GSD) were complex, disabling and life-threatening without effective diagnostic and treatm...
Hemodynamic changes and perinatal outcome associated with umbilical artery thrombosis: a retrospective study
Hemodynamic changes and perinatal outcome associated with umbilical artery thrombosis: a retrospective study
Poor fetal and perinatal outcomes in fetuses associated with umbilical artery thrombosis (UAT), such as severe intrauterin...
Clinical and genetic studies for a cohort of patients with congenital stationary night blindness
Clinical and genetic studies for a cohort of patients with congenital stationary night blindness
Congenital stationary night blindness (CSNB) is an inherited retinal disorder. Most of patients have myopia. This study ai...
Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study
Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study
Osteogenesis Imperfecta (OI) is a heterogeneous group of connective tissue disorders, characterized by varying degrees of ...