J Kevin Hicks
J Kevin Hicks
Comparing 2D and 3D representations for face-based genetic syndrome diagnosis [0.03%]
二维与三维面部表型的遗传综合征的基因诊断性能比较研究
Jordan J Bannister,Matthias Wilms,J David Aponte et al.
Jordan J Bannister et al.
Human genetic syndromes are often challenging to diagnose clinically. Facial phenotype is a key diagnostic indicator for hundreds of genetic syndromes and computer-assisted facial phenotyping is a promising approach to assist diagnosis. Mos...
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant [0.03%]
TRIP12变异个体的神经发育和面部表型
Mio Aerden,Anne-Sophie Denommé-Pichon,Dominique Bonneau et al.
Mio Aerden et al.
Haploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum disorder and dysmorphic features, also named Clark-Baraitser syndrome. Only a limited numbe...
Eva Pears,Louis Stokes,Alisdair McNeill
Eva Pears
Rokhaya Ba,Axelle Durand,Vincent Mauduit et al.
Rokhaya Ba et al.
KiT-GENIE is a monocentric DNA biobank set up to consolidate the very rich and homogeneous DIVAT French cohort of kidney donors and recipients (D/R) in order to explore the molecular factors involved in kidney transplantation outcomes. We c...
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot [0.03%]
Correction to: MECP2基因突变热点p.(Thr158Met)的基因编辑中HDR频率较高
Susanna Croci,Miriam Lucia Carriero,Katia Capitani et al.
Susanna Croci et al.
A family with ulcerative colitis maps to 7p21.1 and comprises a region with regulatory activity for the aryl hydrocarbon receptor gene [0.03%]
一个溃疡性结肠炎家系的易感基因位于染色体7短臂2区1带，并包含芳香烃受体的调控区域
Hans Eiberg,Josephine B Olsson,Mads Bak et al.
Hans Eiberg et al.
We have mapped a locus on chromosome 7p22.3-7p15.3 spanning a 22.4 Mb region for ulcerative colitis (UC) by whole genome linkage analyses of a large Danish family. The family represent three generations with UC segregating as an autosomal d...
Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1 [0.03%]
NF1基因内的内含子倒位作为神经纤维瘤病I型的致病机制的评论
Laurence Pacot,Albain Chansavang,Sébastien Jacques et al.
Laurence Pacot et al.
GBA/GBN-position on the feedback of incidental findings in biobank-based research: consensus-based workflow for hospital-based biobanks [0.03%]
基于医院的生物样本库中偶发发现反馈的共识工作流程
Joerg Geiger,Joerg Fuchs,Madeline Starke et al.
Joerg Geiger et al.
Incidental research findings pose a considerable challenge to hospital-based research biobanks since they are acting as intermediaries between healthcare and research. In a joint action the centralized biobank ibdw (Interdisciplinary Bank o...
Clinical interest of molecular study in cases of isolated midline craniosynostosis [0.03%]
分子研究在孤立中线颅缝早闭中的临床意义
Federico Di Rocco,Massimiliano Rossi,Isabelle Verlut et al.
Federico Di Rocco et al.
In some cases of infants with apparently isolated single-suture synostosis, an underlying variant can be found. We aimed to determine the molecular substratum in isolated sagittal and metopic craniosynostosis. To this end, we included all i...