Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
about
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic ApneaUnsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' viewsEvolving health care through personal genomics.Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal featuresNeuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation.Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyUnsolved challenges in pediatric whole-exome sequencing: A literature analysis.Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyClinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.Assessment of clinical workload for general and specialty genetic counsellors at an academic medical center: a tool for evaluating genetic counselling practices.The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.Intellectual Disability & Rare Disorders: A Diagnostic Challenge.A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.Genetic Approach to Diagnosis of Intellectual Disability.CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageNovel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disabilityGenetics of autosomal recessive intellectual disability
P2860
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P2860
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh
2016年學術文章
@zh-hant
name
Diagnostic odyssey in severe n ...... a first-line diagnostic test.
@en
type
label
Diagnostic odyssey in severe n ...... a first-line diagnostic test.
@en
prefLabel
Diagnostic odyssey in severe n ...... a first-line diagnostic test.
@en
P2093
P2860
P356
P1433
P1476
Diagnostic odyssey in severe n ...... s a first-line diagnostic test
@en
P2093
A Masurel-Paulet
A Steinmetz
C Thauvin-Robinet
J B Rivière
M Chouchane
M Lefebvre
P2860
P304
P356
10.1111/CGE.12732
P50
P577
2016-04-26T00:00:00Z