ASFMR1splice variant
نویسندگان
چکیده
منابع مشابه
Folding Variant Narrowing and Optimal Variant Termination
If a set of equations E∪Ax is such that E is confluent, terminating, and coherent modulo Ax, narrowing with E modulo Ax provides a complete E∪Ax-unification algorithm. However, except for the hopelessly inefficient case of full narrowing, nothing seems to be known about effective narrowing strategies in the general modulo case beyond the quite depressing observation that basic narrowing is inco...
متن کاملRare Variant of Lycanthropy and Ecstasy
Abstract Background: Lycanthropy is an unusual belief or delusion in which the patient thinks that he/she has been transformed into an animal. In rare cases, the patient believes that another person has been transformed into an animal. Case Report: We report a patient with an uncommon variant of lycanthropy is introduced. The symptoms appeared after consumption of ecstasy. This show...
متن کاملHolt-Oram Syndrome: A Rare Variant
Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic...
متن کاملA case report of variant scimitar syndrome
Background: Scimitar syndrome (SS) or congenital pulmonary venolobar syndrome is a rare anomaly, most commonly including partial pulmonary venous drainage into the inferior vena cava, right lung hypoplasia, dextroposition of the heart, and anomalous systemic arterial supply from aorta or one of its branches to the right lung. Case report: A 10-day-old female infant was referred to our hospital...
متن کاملDelay-Dependent Robust Asymptotically Stable for Linear Time Variant Systems
In this paper, the problem of delay dependent robust asymptotically stable for uncertain linear time-variant system with multiple delays is investigated. A new delay-dependent stability sufficient condition is given by using the Lyapunov method, linear matrix inequality (LMI), parameterized first-order model transformation technique and transformation of the interval uncertainty in to the norm ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2018
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000246