Disorders of the genome architecture: a review. - Wikidata - awgldk - TriplyDB

Disorders of the genome architecture: a review.

Disorders of the genome architecture: a review.

http://www.wikidata.org/entity/Q37223724

about

Advances in understanding - genetic basis of intellectual disability iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data Saturation of the human phenome Etiological analysis of neurodevelopmental disabilities: single-center eight-year clinical experience in south China.Copy number variations in a population-based study of Charcot-Marie-Tooth disease Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome.Pysim-sv: a package for simulating structural variation data with GC-biases.miRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome.Drosophila Model for the Analysis of Genesis of LIM-kinase 1-Dependent Williams-Beuren Syndrome Cognitive Phenotypes: INDELs, Transposable Elements of the Tc1/Mariner Superfamily and MicroRNAs.The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing.Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

P2860

Q26748977-F1FB2F33-19A1-4126-98E6-D9091ADBD96F Q30763394-3A867AE3-4B20-4DB1-8B53-238B2C55C109 Q33885880-D42C42E4-B8D5-4FBC-AD67-933BD1A8319C Q34170024-A39BA91F-5048-45C8-8532-94D598D9913F Q35013000-948CC140-C10A-477E-8744-7281334A3663 Q35115389-5CAFE8C3-565C-475C-9088-CCCEA088F851 Q36329428-B845565A-035E-4345-B5EB-DC85627B5295 Q36463734-9E0A20A2-835C-4A9B-A4F6-05F019D25ADB Q42363242-8F9331CE-F1E0-45F6-ABA7-34DB686720A1 Q52674888-1124A673-583C-414F-A141-9E65F18983FF Q56320427-8FDAB9DF-1A9E-4F59-A494-FA26B00F7AC3 Q57949646-FEC1E409-C947-4855-B7DA-3B37CA6155F7

P2860

Disorders of the genome architecture: a review.

http://www.wikidata.org/entity/Q37223724

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on December 2008

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Disorders of the genome architecture: a review.

@en

Disorders of the genome architecture: a review.

@nl

type

label

Disorders of the genome architecture: a review.

@en

Disorders of the genome architecture: a review.

@nl

prefLabel

Disorders of the genome architecture: a review.

@en

Disorders of the genome architecture: a review.

@nl

P1433

Q37223724-1341830B-B528-424F-86A9-CA864030385C

P1476

Q37223724-9C6825A7-0521-4694-91A5-A8A56D2023F1

P2093

Q37223724-0E27FF3A-CB7C-49A7-8A30-AF237AB2096B

P2860

Q37223724-09A61D1D-62F9-4231-B657-C9249C950732

Q37223724-0EF59311-BD48-4F94-AA86-3E5A2C2C222C

Q37223724-1A184950-D137-4F6E-A2D9-B032F968F046

Q37223724-22965EDC-8F5F-4515-AAE4-1C0EFCA5CD0D

Q37223724-293AD228-53AC-4E03-900C-DDD4800D2A6B

Q37223724-33926280-C921-4D77-A68B-F66072779300

Q37223724-4A1A620B-E926-49AA-AE3D-FD25A2CE0957

Q37223724-4A3ADC98-AF06-4CEF-A01E-FAF66B9E5541

Q37223724-4A919B70-AC53-4850-9C98-40965F16A487

Q37223724-53B2AFF7-00C6-450B-8B51-DE1AE0CA538C

P304

Q37223724-107E15A3-6493-44CD-A455-A15F237F6D17

P31

Q37223724-1EAF353E-240B-4E60-ADB3-60EDA7A62A20

P356

Q37223724-26B2CE23-1CBC-4D63-AA00-D4F86499EF72

P433

Q37223724-C14577B7-7895-410E-BFD0-7BA79EDAE1F2

P478

Q37223724-A720D982-9BE6-473F-B6E5-FAF65E96D37C

P577

Q37223724-5A5BF61B-DCCE-4BFD-8650-3D4C9A928822

P5875

Q37223724-6FED15F6-44B8-4726-AAED-6BBC15B86906

P698

Q37223724-2A3529B5-05D5-4DFB-9D2C-870880EB2DC3

P932

Q37223724-CA552CEC-8770-4D49-975D-3586495035A8

P356

S11568-009-9028-2

P1433

Genomic medicine

P1476

Disorders of the genome architecture: a review.

@en

P2093

Dhavendra Kumar

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

P2860

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

Severe expressive-language delay related to duplication of the Williams-Beuren locus.

Global variation in copy number in the human genome

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

A common molecular basis for rearrangement disorders on chromosome 22q11

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.

P304

69-76

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

P31

scholarly article

P356

10.1007/S11568-009-9028-2

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

P433

3-4

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

P478

2

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

P577

2008-12-01T00:00:00Z

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

P5875

24193001

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

P698

19277903

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

P932

2694859

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