E Woods,K J Low,T J Cole et al.
E Woods et al.
Functional Independence in Adults With Prader-Willi Syndrome: First Report Using the FIM Instrument [0.03%]
普拉德-威利综合征成人患者的功能独立性：首次使用FIM量表报告
Yuji Oto,Hiroyuki Ogata,Erina Nakane et al.
Yuji Oto et al.
A significant positive correlation between age and functional independence has been reported in pediatric patients with Prader-Willi Syndrome (PWS) using the Functional Independence Measure (FIM) for Children (WeeFIM). However, no previous ...
Experience and Satisfaction of Genetic Clinicians With Electronic Health Records (EHR) [0.03%]
遗传临床医生关于电子健康记录(EHR)的体验和满意度
Mindy H Li,Alison Conn,Barak Bar et al.
Mindy H Li et al.
The objective of this study was to evaluate the EHR user experience and satisfaction of clinicians in the medical genetics and genomics field. An anonymous survey was sent through genetic related listservs and LinkedIn to a broad range of g...
Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI [0.03%]
SERPINF1基因c.[-37C>A];[829_831del]突变导致成骨不全症VI型
Vaishnavi Ashok Badiger,Sheela Nampoothiri,Meher Mounika Vangara et al.
Vaishnavi Ashok Badiger et al.
Osteogenesis imperfecta type VI is a rare genetic disorder caused by biallelic disease-causing variants in SERPINF1. The phenotype is characterized by severe osteopenia, recurrent fractures, and moderate to severe skeletal deformities. We r...
Respiratory Involvement in HIST1H1E-Related Rahman Syndrome: A Case of Severe Mixed Apnea [0.03%]
与HIST1H1E基因相关的Rahman综合征的呼吸系统受累：一例重度混合型睡眠呼吸暂停病例报告
Nada Barakat,Marjolaine Champagne,Mathieu Bergeron et al.
Nada Barakat et al.
Rahman syndrome (HIST1H1E-related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal-dominant condition caused by truncating variants in the C-terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia,...
The Efficacy of the iCanCope Mobile Application for Neurofibromatosis Type 1 (NF1): A Three-Arm Randomized Controlled Trial [0.03%]
一种针对I型神经纤维瘤的手机应用程序(iCanCope)的有效性:一项三臂随机对照试验
Frank D Buono,Ondrej Blaha,Chitra Lalloo et al.
Frank D Buono et al.
Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder that presents with severe chronic pain (CP) in adults. A limited number of NF1 research studies have evaluated behaviorally based interventions to address CP. The curr...
Serum Vitamin A and Vitamin E Levels in Individuals With Smith-Lemli-Opitz Syndrome [0.03%]
史密斯-莱米-奥普茨综合征患者的血清维生素A和维生素E水平
Garrett R Bowman,Samar N Rahhal,Forbes D Porter
Garrett R Bowman
Long-Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy [0.03%]
基于长读测序的基因组测序确定了两个不同的功能效应的DNM1biallelic致病变异是早期婴儿发育和癫痫性脑病的原因
Andy Drackley,Merlene Peter,Heba H Akbari et al.
Andy Drackley et al.
Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant d...
Simpson-Golabi-Behmel Syndrome Associated With a Missense Variant at the Signal Peptide Cleavage Site of GPC3 [0.03%]
GPC3信号肽切割位点错义突变引起的Simpson-Golabi-Behmel综合征病例报告
Tonya Moss,Natasha L Rudy,Kaelyn Sparks et al.
Tonya Moss et al.
Translocation of newly synthesized proteins into the lumen of the endoplasmic reticulum (ER) is mediated by signal peptide recognition and cleavage. Here we report an individual with Simpson-Golabi-Behmel syndrome (SGBS) bearing a GPC3 miss...
Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics [0.03%]
病例系列：常规临床基因诊断中鉴定的杂合致病变异体RTEL1的临床意义
Eileen Wedge,Andreas Ørslev Rasmussen,Line Borgwardt et al.
Eileen Wedge et al.
Whilst biallelic variants in RTEL1 are an established cause of telomere biology disorder (TBD), the significance of heterozygous variants has been more challenging to establish. In this nationwide analysis, we describe 18 individuals with h...