Results 141 to 150 of about 2,206,324 (288)
Incidence of hip problems in developmental central hypotonia: A scoping review
Developmental Medicine &Child Neurology, Volume 67, Issue 3, Page 307-321, March 2025.Abstract Aim To describe what is known about hip problems in individuals with developmental central hypotonia. Method Searches were conducted in five databases to October 2023. Down syndrome was excluded from this analysis of less well‐known genetic diagnoses. At least two reviewers independently screened titles, abstracts, read full‐text articles, and
Roslyn W. Livingstone +4 more
wiley +1 more source
The Hermite-Joubert problem and a conjecture of Brassil-Reichstein [PDF]
arXiv, 2017 We show that Hermite theorem fails for every integer $n$ of the form $3^{k_1}+3^{k_2}+3^{k_3}$ with integers $k_1>k_2>k_3\geq 0$. This confirms a conjecture of Brassil and Reichstein. We also obtain new results for the relative Hermite-Joubert problem over a finitely generated field of characteristic $0$.
arxiv
Convexity and translational invariance constraint on the exchange-correlation functional [PDF]
, 1996 Knowledge of the properties of the exchange-correlation functional in the form $\frac 1\lambda v_{xc}([\rho _\lambda ],\frac{{\bf r}}\lambda )$, where $\rho _\lambda ({\bf r})=$ $\lambda ^3\rho (\lambda {\bf r}),$ is important when expressing the exchange-correlation energy as a line integral $% E_{xc}[\rho ]=\int_0^1d\lambda \int d{\bf r}\frac 1 ...
arxiv +1 more source
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) [PDF]
, 2010 OBJECTIVE: To identify genetic causes of COACH syndrome BACKGROUND: COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and ...
Al-Mateen, M. +22 more
core +1 more source
Lingual Frenectomy in Joubert Syndrome
The Journal of Contemporary Dental Practice, 2017 ABSTRACT Aim Our aim is to present a case of a rare disorder, such as Joubert syndrome (JS) which required oral surgical intervention under general anesthesia at a very young age to help in achieving normal developmental milestones. Background Ciliopathies are an emerging class of diseases of which JS is a significant member.
Minal Gurjar +3 more
openaire +2 more sources
Joubert's theorem fails in characteristic 2 [PDF]
C. R. Math. Acad. Sci. Paris 352 (2014), no. 10, 773--777, 2014 Let L/K be a separable field extension of degree 6. An 1867 theorem of P. Joubert asserts that if char(K) is different from 2 then L is generated over K by an element whose minimal polynomial is of the form t^6 + a t^4 + b t^2 + ct + d for some a, b, c, d in K. We show that this theorem fails in characteristic 2.
arxiv
The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking [PDF]
, 2011 Ciliopathies are a genetically and phenotypically heterogeneous group of human developmental disorders whose root cause is the absence or dysfunction of primary cilia.
Alvarez-Delfin +91 more
core +2 more sources
Syndrome Measurement Strategies for the [[7,1,3]] Code [PDF]
arXiv, 2015 Quantum error correction (QEC) entails the encoding of quantum information into a QEC code space, measuring error syndromes to properly locate and identify errors, and, if necessary, applying a proper recovery operation. Here we compare three syndrome measurement protocols for the [[7,1,3]] QEC code: Shor states, Steane states, and one ancilla qubit by
arxiv
Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome [PDF]
, 2012 Joubert syndrome and related diseases (JSRD) are developmental cerebello-oculo-renal syndromes with phenotypes including cerebellar hypoplasia, retinal dystrophy and nephronophthisis (a cystic kidney disease).
Amy Barker +9 more
core +2 more sources