Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm.

about

Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm.

Item

http://www.wikidata.org/entity/Q54646261

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh

2018年學術文章

@zh-hant

name

Patient with Marfan Syndrome a ...... ral Popliteal Artery Aneurysm.

@en

Patient with Marfan Syndrome a ...... ral Popliteal Artery Aneurysm.

@nl

type

Item

label

Patient with Marfan Syndrome a ...... ral Popliteal Artery Aneurysm.

@en

Patient with Marfan Syndrome a ...... ral Popliteal Artery Aneurysm.

@nl

prefLabel

Patient with Marfan Syndrome a ...... ral Popliteal Artery Aneurysm.

@en

Patient with Marfan Syndrome a ...... ral Popliteal Artery Aneurysm.

@nl

P1476

Patient with Marfan Syndrome a ...... ral Popliteal Artery Aneurysm.

@en

P2093

Ahmed Mohammad

http://www.w3.org/2001/XMLSchema#string

Haytham Helmi

http://www.w3.org/2001/XMLSchema#string

P2860

An integrated map of genetic variation from 1,092 human genomes

Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein

Analysis of protein-coding genetic variation in 60,706 humans

Molecular genetics of Marfan syndrome

The revised Ghent nosology for the Marfan syndrome

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

Marfan syndrome-diagnosis and management.

P304

6780494

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

case report

P356

10.1155/2018/6780494

http://www.w3.org/2001/XMLSchema#string

P478

2018

http://www.w3.org/2001/XMLSchema#string

P50

Paldeep S Atwal

P577

2018-03-29T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

29796325

http://www.w3.org/2001/XMLSchema#string

P932

5896231

http://www.w3.org/2001/XMLSchema#string