about
Mechanisms underlying structural variant formation in genomic disordersIncreased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence dataOpposing brain differences in 16p11.2 deletion and duplication carriers.Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.Interpreting human genetic variation with in vivo zebrafish assays.Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze TypeCopy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder.Genetic basis of human congenital anomalies of the kidney and urinary tract.Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations.16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio.
P2860
Q26765934-BE01C75C-B7B3-440C-92F4-6F3F93077423Q30849515-DC6838BD-D0AE-4EEF-A5C5-A549EF618A4FQ34067282-D869D696-8855-496D-A46F-7E02C0D1BB62Q34987854-A2967A28-8CF0-4984-821F-223E53DE2361Q35241649-892052B4-33E2-4CDA-A28B-76F6F1A768E9Q36369958-B1057D12-39EC-4116-9073-AA24BC72811EQ36807618-3960A9C4-F0D4-438D-94AA-692BF01424A7Q37298164-A4311458-2BD1-492C-953C-A25D4DC6C705Q38731983-F985398D-FB75-44B5-9A8D-582BADF0685EQ41918222-1C9FBD0B-9938-407A-B4DB-262E9982476EQ46976609-2AE41BBE-D084-407A-9019-B8B31DA4FF7CQ47224735-FDFB215A-7496-4771-8C05-80E34EBE8C96Q52654975-4780F9B2-66AF-4A37-9E15-5E99ABABBD58Q53085567-64FF3B3B-F852-444B-B83A-12E128630696Q53320739-855A1AAC-D8BB-43CE-AACA-80EAEF613F54Q54060427-CAAD2F5D-BE70-4875-A860-04024A45FBC4Q55517165-40BC987E-77FD-40FD-B685-23572B28005D
P2860
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Genetic architecture of reciprocal CNVs.
@en
type
label
Genetic architecture of reciprocal CNVs.
@en
prefLabel
Genetic architecture of reciprocal CNVs.
@en
P2860
P1476
Genetic architecture of reciprocal CNVs.
@en
P2860
P304
P356
10.1016/J.GDE.2013.04.013
P577
2013-06-05T00:00:00Z