Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
about
Latrophilin 1 and its endogenous ligand Lasso/teneurin-2 form a high-affinity transsynaptic receptor pair with signaling capabilitiesInternational Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptorsGipc1 has a dual role in Vangl2 trafficking and hair bundle integrity in the inner ear.A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delayDIA1R is an X-linked gene related to Deleted In Autism-1.Genomic analysis of fibrolamellar hepatocellular carcinoma.Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8LSyndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.Annual research review: The (epi)genetics of neurodevelopmental disorders in the era of whole-genome sequencing--unveiling the dark matter.Adhesion GPCR-Related Protein Networks.Adhesion GPCRs as Novel Actors in Neural and Glial Cell Functions: From Synaptogenesis to Myelination.Identification and evolution of latrophilin receptor gene involved in Tribolium castaneum devolopment and female fecundity.Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study.Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.Protein kinase N1 critically regulates cerebellar development and long-term function.Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.Perinatal findings in a patient with a novel large chromosome 19p deletion
P2860
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P2860
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
@ast
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
@en
type
label
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
@ast
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
@en
prefLabel
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
@ast
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
@en
P2093
P2860
P50
P356
P1476
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions
@en
P2093
Claudio Zucca
Daniele Brambilla
Elisabeth Mangold
Grazia Minardo
Luigi Memo
Ruthild G Weber
Silvana Beri
Simona Commodaro
Susan Marelli
P2860
P2888
P304
P356
10.1038/EJHG.2010.115
P577
2010-07-21T00:00:00Z