Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing
about
Fatal familial insomnia with abnormal signals on routine MRI: a case report and literature review.New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Myopathology in the times of modern genetics.GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.Identification of C12orf4 as a gene for autosomal recessive intellectual disability.Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
P2860
Q33733902-F2EDF26A-2948-4DE8-839D-BE50FC501E62Q36243253-A4E43360-FD66-402C-8E58-BB1ED52DE999Q38655437-17032084-715B-42AA-B835-F6C191006B6FQ39051467-9DAE9FD3-C13D-4589-B81D-AC27FD36C826Q47706903-E9C42B89-3F9F-41F1-85FB-7FE7DCAC3814Q48197035-F986286B-F908-4B28-A7C0-825FF3744E6FQ48267267-A81FF4CD-60FC-44A2-A5F7-710B44B6B064
P2860
Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Increased Probability of Co-Oc ...... by Next Generation Sequencing
@ast
Increased Probability of Co-Oc ...... by Next Generation Sequencing
@en
type
label
Increased Probability of Co-Oc ...... by Next Generation Sequencing
@ast
Increased Probability of Co-Oc ...... by Next Generation Sequencing
@en
prefLabel
Increased Probability of Co-Oc ...... by Next Generation Sequencing
@ast
Increased Probability of Co-Oc ...... by Next Generation Sequencing
@en
P2093
P2860
P1433
P1476
Increased Probability of Co-Oc ...... by Next Generation Sequencing
@en
P2093
Andreas Hahn
Anne Schänzer
Bernd A Neubauer
Clemens Kamrath
Dennis Lal
Holger Thiele
Janine Altmüller
Mohammad R Toliat
Thomas Sander
P2860
P304
P356
10.1371/JOURNAL.PONE.0146040
P407
P577
2016-01-20T00:00:00Z